MedWorm.com provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest items from the 'Clinical Genetics' source. Sun, 21 Mar 2010 16:43:46 +0100 http://www.medworm.com/index.php?rid=3385674&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236120%26dopt%3DAbstract Authors: Kraoua L, Chaabouni M, Trabelsi M, Chelly I, Maazoul F, Ben Abdallah N, Boukthir S, Barsaoui S, Chaabouni H, M'rad R PMID: 20236120 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385674 Fri, 05 Mar 2010 00:00:00 +0100 3385674 http://www.medworm.com/index.php?rid=3385671&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236123%26dopt%3DAbstract Authors: Sow AJ, Ramli R, Latiff ZA, Ichikawa S, Gray AK, Nordin R, Abd Jabar MN, Primuharsa Putra SH, Siar CH, Econs MJ PMID: 20236123 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385671 Fri, 05 Mar 2010 00:00:00 +0100 3385671 http://www.medworm.com/index.php?rid=3385684&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236109%26dopt%3DAbstract Authors: Faiyaz-Ul-Haque M, Zaidi S, Hasanato R, Al-Abdullatif A, Cluntun A, Teresita G, Toulimat M, Al-Nounou R, Al-Dayel F, Peltekova I, Bhuiyan JA PMID: 20236109 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385684 Thu, 04 Mar 2010 00:00:00 +0100 3385684 http://www.medworm.com/index.php?rid=3385683&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236111%26dopt%3DAbstract Authors: Lindstrand A, Schoumans J, Gustavsson P, Hanemaaijer N, Malmgren H, Blennow E Lindstrand A, Schoumans J, Gustavsson P, Hanemaaijer N, Malmgren H, Blennow E. Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH. Array-CGH is a powerful tool for the rapid detection of genomic imbalances. By customizing the array it is possible to increase the resolution in a targeted genomic region of interest and determine the structure of the breakpoints with high accuracy, as well as to detect very small imbalances. We have used targeted custom arrays to zoom in on 38 chromosomal breakpoints from 12 different patients carrying both balanced and unbalanced rearrangements. We show that it is possible to characterize unbalanced breakpoints within... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385683 Thu, 04 Mar 2010 00:00:00 +0100 3385683 http://www.medworm.com/index.php?rid=3385682&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236112%26dopt%3DAbstract Authors: Franciosi S De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies Ogiwara et al. (2009) Neurology 73(13): 1046-1053. PMID: 20236112 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385682 Mon, 01 Mar 2010 00:00:00 +0100 3385682 http://www.medworm.com/index.php?rid=3385681&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236113%26dopt%3DAbstract Authors: Franciosi S Reduced histone deacetylase 7 activity restores function to misfolded CFTR in cystic fibrosis Hutt et al. (2009) Nature Chemical Biology 6(1): 25-33. PMID: 20236113 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385681 Mon, 01 Mar 2010 00:00:00 +0100 3385681 http://www.medworm.com/index.php?rid=3385680&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236114%26dopt%3DAbstract Authors: Franciosi S Nexilin mutations destabilize z-disks and lead to dilated cardiomyopathy Hassel et al. (2009) Nature Medicine 15(11): 1281-1288. PMID: 20236114 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385680 Mon, 01 Mar 2010 00:00:00 +0100 3385680 http://www.medworm.com/index.php?rid=3385679&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236115%26dopt%3DAbstract Authors: Dad S, Ostergaard E, Thykjær T, Albrectsen A, Ravn K, Rosenberg T, Møller LB Dad S, Østergaard E, Thykjaer T, Albrectsen A, Ravn K, Rosenberg T, Møller LB. Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous Danish family of Dutch descent, we have identified a novel locus for a rare USH3-like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dys... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385679 Mon, 01 Mar 2010 00:00:00 +0100 3385679 http://www.medworm.com/index.php?rid=3385678&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236116%26dopt%3DAbstract Authors: Urreizti R, Moya-García AA, Pino-Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch R, Baldellou A, Vilarinho L, Fowler B, Ribes A, Sánchez-Jiménez F, Grinberg D, Balcells S Urreizti R, Moya-García AA, Pino- Angeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch R, Baldellou, A, Vilarinho L, Fowler B, Ribes A, Sánchez-Jiménez F, Grinberg D, Balcells S. Molecular characterization of five patients with homocystinuria due to severe MTHFR deficiency. Methylenetetrahydrofolate reductase (MTHFR) plays a major role in folate metabolism. Disturbed function of the enzyme results in hy... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385678 Mon, 01 Mar 2010 00:00:00 +0100 3385678 http://www.medworm.com/index.php?rid=3385677&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236117%26dopt%3DAbstract Authors: Sequeiros J, Ramos EM, Cerqueira J, Costa MC, Sousa A, Pinto-Basto J, Alonso I Sequeiros J, Ramos EM, Cerqueira J, Costa MC, Sousa A, Pinto-Basto J, Alonso I. Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population. Large normal ('intermediate') alleles may produce de novo expansions in Huntington disease; nevertheless, there is very little evidence about their population prevalence and impact in daily practice, and there are conflicting reports about the extent of their instability. We estimated the frequency of large normal alleles (27-35 CAGs) and of reduced penetrance alleles (36-39 CAGs), as well as the frequency of genotypes carrying them, in (i) a diagnostic laborator... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385677 Mon, 01 Mar 2010 00:00:00 +0100 3385677 http://www.medworm.com/index.php?rid=3385676&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236118%26dopt%3DAbstract Authors: Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz HJ, da Silva-Costa SM, del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJH, Friderici KH. A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (S... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385676 Mon, 01 Mar 2010 00:00:00 +0100 3385676 http://www.medworm.com/index.php?rid=3385675&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236119%26dopt%3DAbstract Authors: Auber B, Burfeind P, Thiels C, Alsat EA, Shoukier M, Liehr T, Nelle H, Bartels I, Salinas-Riester G, Laccone F PMID: 20236119 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385675 Mon, 01 Mar 2010 00:00:00 +0100 3385675 http://www.medworm.com/index.php?rid=3385668&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236127%26dopt%3DAbstract Authors: Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M. X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings from a retrospective study of 24 families. Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of ectodermal structures and its molecular etiology corresponds to mutations of EDA-EDAR genes. The aim of this study was first to investigate the genotype and dental phenotype associated with HED and second, to explore possible correlations between dental features and molecular... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385668 Wed, 24 Feb 2010 00:00:00 +0100 3385668 http://www.medworm.com/index.php?rid=3385673&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236121%26dopt%3DAbstract We report a family with two siblings carrying a homozygous mutation in the start codon of FKRP that is likely to result in a loss of functional FKRP protein. The clinical phenotype of the patients was consistent with Walker-Warburg syndrome, the most severe disorder in the disease spectrum of dystroglycanopathies. PMID: 20236121 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385673 Thu, 11 Feb 2010 00:00:00 +0100 3385673 http://www.medworm.com/index.php?rid=3385672&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236122%26dopt%3DAbstract Authors: Parodi S, Vollono C, Baglietto MP, Balestri M, Di Duca M, Landri PA, Ceccherini I, Ottonello G, Cilio MR Parodi S, Vollono C, Baglietto MP, Balestri M, Di Duca M, Landri PA, Ceccherini I, Ottonello G, Cilio MR. Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation. Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder. Although most CCHS associated PHOX2B mutations occur de novo, about 10% of the cases are inherited from apparently asymptomatic parents, thus confirming variable expressivity and incomplete penetrance of PHOX2B mutations. Three asymptomatic parents of children affected with CCHS, and found to carry the same PHOX2B expansion mutations as their siblin... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385672 Thu, 11 Feb 2010 00:00:00 +0100 3385672 http://www.medworm.com/index.php?rid=3385670&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236125%26dopt%3DAbstract Authors: Chien WH, Gau SS, Wu YY, Huang YS, Fang JS, Chen YJ, Soong WT, Chiu YN, Chen CH Chien W-H, Gau SS-F, Wu Y-Y, Huang Y-S, Fang J-S, Chen Y-J, Soong W-T, Chiu Y-N, Chen C-H. Identification and molecular characterization of two novel chromosomal deletions associated with autism. Autism is a childhood-onset neurodevelopmental disorder with a strong genetic basis in its etiology. Conventional karyotype analysis has revealed that chromosomal structural aberrations such as translocation, inversion, deletion, and duplication play a role in causing autism spectrum disorders (ASD). In addition, recent array-based comparative genomic hybridization (array CGH) studies discovered that submicroscopic deletion and duplication of DNA segments also contributed significantly to the genetic etiol... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385670 Thu, 11 Feb 2010 00:00:00 +0100 3385670 http://www.medworm.com/index.php?rid=3385669&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20236126%26dopt%3DAbstract Authors: Peterson EA, Petty EM Peterson EA and Petty EM. Conquering the complex world of human septins: implications for health and disease. Septins are highly conserved filamentous proteins first characterized in budding yeast and subsequently identified in must eukaryotes. Septins can bind and hydrolyze GTP, which is intrinsically related to their formation of septin hexamers and functional protein interactions. The human septin family is composed of 14 loci, SEPT1-SEPT14, which encode dozens of different septin proteins. Their central GTPase and polybasic domain regions are highly conserved but they diverge in their N-terminus and/or C-terminus. The mechanism by which the different isoforms are generated is not yet well understood, but one can hypothesize that the use of different p... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3385669 Thu, 11 Feb 2010 00:00:00 +0100 3385669 http://www.medworm.com/index.php?rid=3315224&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20184621%26dopt%3DAbstract This study evaluates the prevalence of distress among VHL family members and factors associated significantly with such distress. Forty-eight families with a VHL mutation were identified via the nine family cancer clinics in the Netherlands. In total, 171 family members (carriers, 50% at-risk, non-carriers) were approached, of whom 123 (72%) completed a self-report questionnaire. Approximately 40% of the VHL family members reported clinically relevant levels of distress, approaching 50% among the carriers and, possibly even more striking, 36% among the non-carriers. Having lost a first degree relative due to VHL during adolescence (OR 11.2; 95% CI 1.4-86.9) was related significantly to heightened levels of distress. Approximately, only one-third of those who reported heightened levels of d... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3315224 Thu, 11 Feb 2010 00:00:00 +0100 3315224 http://www.medworm.com/index.php?rid=3299803&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20175788%26dopt%3DAbstract Authors: Hofer D, Paul K, Fantur K, Beck M, Rouberge A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E Hofer D, Paul K, Fantur K, Beck M, Rouberge A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile, juvenile, or adult onset, caused by alterations in the structural gene coding for lysosomal acid ss-galactosidase (GLB1). In addition, allelic variants of this gene can result in Morquio B disease (MBD), a phenotype with dysostosis multiplex and entire lack of neurologic involvement. More than 100 sequence alterations in the GLB1 gene have been identified so far, but only few... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3299803 Thu, 11 Feb 2010 00:00:00 +0100 3299803 http://www.medworm.com/index.php?rid=3248753&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20132242%26dopt%3DAbstract We report clinical and genetic analyses of a consanguineous Iranian family segregating autosomal recessive non-syndromic hearing loss (ARNSHL). The hearing impairment was mapped to the DFNB2 locus using Affymetrix 50K GeneChips; direct sequencing of the MYO7A gene was completed. The Iranian family (L-1419) was shown to segregate a novel homozygous missense mutation (c.1184G>A) that results in a p.R395H amino acid substitution in the motor domain of the myosin VIIA protein. As one affected family member had significantly less severe hearing loss, we used a candidate approach to search for a genetic modifier. This novel MYO7A mutation is the first reported to cause DFNB2 in the Iranian population and this DFNB2 family is the first to be associated with a potential modifier. The absence of... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3248753 Thu, 04 Feb 2010 00:00:00 +0100 3248753 http://www.medworm.com/index.php?rid=3248752&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20132243%26dopt%3DAbstract This study thoroughly examined two FBN1 mutations on exons 24-32 region to illustrate the molecular mechanisms underlying these FBN1 mutations on MFS etiology. Two nucleotide substitutions, c.3208G> C, the last nucleotide of exon 26, and c.3209A>G, the first nucleotide of exon 27, affecting the same amino acid, p.D1070H and p.D1070G, respectively, gave very different phenotypes. We demonstrate that c.3208G>C generates two alternatively spliced transcripts, while c.3209A>G does not affect the splicing. We further demonstrate that the aberrantly spliced transcripts do not go through nonsense-mediated decay, but rather produce unstable, premature protein peptides that are degraded by endoplasmic reticulum associated degradation. The molecular mechanism outlined here defines a mode... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3248752 Thu, 04 Feb 2010 00:00:00 +0100 3248752 http://www.medworm.com/index.php?rid=3248751&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20132244%26dopt%3DAbstract Authors: Binni F, Antigoni I, De Simone P, Majore S, Silipo V, Crisi A, Amantea A, Pacchiarini D, Castori M, De Bernardo C, Catricalà C, Grammatico P Binni F, Antigoni I, De Simone P, Majore S, Silipo V, Crisi A, Amantea A, Pacchiarini D, Castori M, De Bernardo C, Catricalà C, Grammatico P. Novel and recurrent p14(ARF) mutations in Italian familial melanoma. CDKN2A and CDK4 are the only known high-penetrant genes conferring proneness to cutaneous melanoma. The CDKN2A locus consists of four exons and encodes several alternate transcripts, two of which are p16(INK4a) and p14(ARF), and originate from different open reading frames. Exon 1alpha is specific for p16(INK4a), while exon 1beta characterizes p14(ARF). Most CDKN2A mutations are located in exons 1alpha and 2, while exon 1... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3248751 Thu, 04 Feb 2010 00:00:00 +0100 3248751 http://www.medworm.com/index.php?rid=3209422&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20096067%26dopt%3DAbstract Authors: Grody WW PMID: 20096067 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3209422 Wed, 27 Jan 2010 13:16:10 +0100 3209422 http://www.medworm.com/index.php?rid=3209421&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20096068%26dopt%3DAbstract Authors: De Souza RA PMID: 20096068 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3209421 Wed, 27 Jan 2010 13:16:08 +0100 3209421 http://www.medworm.com/index.php?rid=3209420&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20096069%26dopt%3DAbstract This study examines the relationship between phenotype and geographical location of patients with Fabry disease in Europe. Data were taken from patients enrolled in the Fabry Outcome Survey (FOS), as of October 2007. A modified version of the Mainz Severity Score Index (FOS-MSSI) was used to classify patients according to the severity of disease. European patients were grouped depending on country of residence (northern or southern European countries). Results are presented from 762 patients enrolled in FOS in Europe (357 men and 405 women); 66% lived in northern and 34% in southern countries. Median age at onset of symptoms of Fabry disease was similar in both sexes. No differences in disease severity were seen among men, according to place of residence; however, women living in northern ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3209420 Wed, 27 Jan 2010 13:16:05 +0100 3209420 http://www.medworm.com/index.php?rid=3209430&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20095981%26dopt%3DAbstract Authors: Skotte N PMID: 20095981 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3209430 Wed, 20 Jan 2010 00:00:00 +0100 3209430 http://www.medworm.com/index.php?rid=3209429&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20095982%26dopt%3DAbstract Authors: Pouladi MA PMID: 20095982 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3209429 Wed, 20 Jan 2010 00:00:00 +0100 3209429 http://www.medworm.com/index.php?rid=3209428&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20095983%26dopt%3DAbstract Authors: Doty CN PMID: 20095983 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3209428 Wed, 20 Jan 2010 00:00:00 +0100 3209428 http://www.medworm.com/index.php?rid=3209427&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20095984%26dopt%3DAbstract Authors: Kozenko M, Chudley AE Kozenko M, Chudley AE. Genetic implications and health consequences following the Chernobyl nuclear accident. It has been almost 25 years since the Chernobyl nuclear accident in Ukraine. We review relevant data derived from published reports originating in the Former Soviet Union. We cite census data from Ukraine and research studies from Western Europe that analyzed the effect of radiation on genetics and health outcome in the exposed populations. We also present philatelic materials that pictorially captured that fateful event in history. PMID: 20095984 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3209427 Wed, 20 Jan 2010 00:00:00 +0100 3209427 http://www.medworm.com/index.php?rid=3209426&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20095987%26dopt%3DAbstract Authors: Mazzeu JF, Vianna-Morgante AM, Krepischi AC, Oudakker A, Rosenberg C, Szuhai K, McGill J, Maccraughan J, van Bokhoven H, Brunner HG PMID: 20095987 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3209426 Wed, 20 Jan 2010 00:00:00 +0100 3209426 http://www.medworm.com/index.php?rid=3209425&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20095988%26dopt%3DAbstract Authors: Hamid R, Hedges LK, Austin E, Phillips JA, Loyd JE, Cogan JD Hamid R, Hedges LK, Austin E, Phillips III JA, Loyd JE, Cogan JD. Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation; implications for treating pulmonary hypertension. Bone morphogenetic protein receptor type 2 (BMPR2) gene mutations are a major risk factor for heritable pulmonary arterial hypertension (HPAH), an autosomal dominant fatal disease. We have previously shown that BMPR2 transcripts that contain premature termination codon (PTC) mutations are rapidly and nearly completely degraded through nonsense mediated decay (NMD). Here we report a unique PTC mutation (W13X) that did not behave in the predicted manner. We found that patient-derived... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3209425 Wed, 20 Jan 2010 00:00:00 +0100 3209425 http://www.medworm.com/index.php?rid=3209424&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20095989%26dopt%3DAbstract In conclusion, we identified 26 novel mutations associated with PCLD and we provide in silico analysis in order to delineate the role of these mutations. PMID: 20095989 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3209424 Wed, 20 Jan 2010 00:00:00 +0100 3209424 http://www.medworm.com/index.php?rid=3209423&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20095990%26dopt%3DAbstract Authors: Menéndez M, Castellví-Bel S, Pineda M, de Cid R, Muñoz J, González S, Teulé A, Balaguer F, Ramón Y Cajal T, Reñé JM, Blanco I, Castells A, Capellà G Menéndez M, Castellví-Bel S, Pineda M, de Cid R, Muñoz J, González S, TeuléA, Balaguer F, Ramón y Cajal T, Maria Reñé J, Blanco I, Castells A, Capellà G. Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome. Lynch syndrome is caused by germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. The novel MSH2 c.[2635-3T>C; 2635-5C>T] mutation was identified in 4 Lynch families, cosegregating with the disease. This mutation, located in intron 15, was predicted to alter the correct ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3209423 Wed, 20 Jan 2010 00:00:00 +0100 3209423 http://www.medworm.com/index.php?rid=3161576&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20059483%26dopt%3DAbstract Authors: Skytte AB, Gerdes AM, Andersen MK, Sunde L, Brøndum-Nielsen K, Waldstrøm M, Kølvraa S, Crüger D Skytte A-B, Gerdes A-M, Andersen MK, Sunde L, Brøndum-Nielsen K, Waldstrøm M, Kølvraa S, Crüger D. Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing. Once female carriers of a BRCA mutation are identified they have to make decisions on risk management. The aim of this study is to outline the uptake of risk-reducing surgery in the Danish population of BRCA mutation positive women and to search for factors affecting this decision. We analysed data from 306 healthy BRCA carriers with no personal history of ovarian or breast cancer. We found a 10-year uptake of 75% for risk-reducing salpingo... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3161576 Wed, 06 Jan 2010 00:00:00 +0100 3161576 http://www.medworm.com/index.php?rid=3161575&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20059484%26dopt%3DAbstract Authors: Hunter JE, Rohr JK, Sherman SL Hunter JE, Rohr JK, Sherman SL. Co-occurring diagnoses among FMR1 premutation allele carriers. Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits. Here, the frequency of self-reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non-carriers aged 18-50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3161575 Wed, 06 Jan 2010 00:00:00 +0100 3161575 http://www.medworm.com/index.php?rid=3161565&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20059485%26dopt%3DAbstract Authors: Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan XW, Corey M, Tsui LC, Zielenski J, Durie P Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan XW, Corey M, Tsui L-C, Zielenski J, Durie P. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Computational methods are used to predict the molecular consequences of amino-acid substitutions on the basis of evolutionary conservation or protein structure, but their utility in clinical diagnosis or prediction of disease outcome has not been well validated. We evaluated three popular computer programs, namely, PANTHER, SIFT and PolyPhen, by comparing the predicted clinical outcomes for a group of known CFTR missense mutations against the diagnosis of cysti... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3161565 Wed, 06 Jan 2010 00:00:00 +0100 3161565 http://www.medworm.com/index.php?rid=3161552&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20059486%26dopt%3DAbstract This study aimed to investigate the clinical variability and factors implied in the outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency (PTPSd). Biochemical and clinical phenotype, treatment variables, and 6-pyruvoyl-tetrahydropterin synthase (PTS) genotype, were explored retrospectively in 19 Italian patients (12 males and 7 females, aged 4 months to 33 years). According to the level of biogenic amines in cerebrospinal fluid (CSF) at the diagnosis, the patients were classified as mild (6) (normal level) or severe (13) (abnormal low level) form (MF and SF, respectively). Blood Phe ranged from 151 to 1053 micromol/l in MF (mean +/- SD: 698 +/- 403) and 342-2120 micromol/l in SF (mean +/- SD: 1175 +/- 517) (p = 0.063). Patients with MF showed a normal neurological development (a trans... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3161552 Sun, 03 Jan 2010 00:00:00 +0100 3161552 http://www.medworm.com/index.php?rid=3134236&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20041885%26dopt%3DAbstract In conclusion, families with an accumulation of PC and melanoma show a large variety of phenotypic expression, which is not always consistent with the FAMMM-PC phenotype. More PC/melanoma-prone families need to be analysed to clarify whether such families represent variations of the FAMMM-PC syndrome or two distinct hereditary cancer syndromes. PMID: 20041885 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3134236 Tue, 22 Dec 2009 00:00:00 +0100 3134236 http://www.medworm.com/index.php?rid=3134235&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20041886%26dopt%3DAbstract We report three new FPLD pedigrees presenting with cardiomyopathy associated with heterozygous LMNA mutations in the amino-terminal region. Two of them had previously reported R60G and R62G mutations and one has a novel D192V mutation. Affected subjects belonging to the pedigree with heterozygous R62G mutation had atrial fibrillation and required pacemaker implantation. The affected subjects from the other pedigrees with R60G and D192V mutations developed severe cardiomyopathy requiring defibrillator implantation and cardiac transplantation before 30 years of age in some and premature death in the fourth decade in others. Thus, our report provides further evidence of association of a multisystem dystrophy syndrome in FPLD patients harboring amino-terminal mutations in LMNA. Increased under... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3134235 Tue, 22 Dec 2009 00:00:00 +0100 3134235 http://www.medworm.com/index.php?rid=3102537&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002450%26dopt%3DAbstract Authors: Griese M, Brasch F, Aldana VR, Cabrera MM, Goelnitz U, Ikonen E, Karam BJ, Liebisch G, Linder MD, Lohse P, Meyer W, Schmitz G, Pamir A, Ripper J, Rolfs A, Schams A, Lezana FJ Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels in serum and lung lavage fluid and the synthesis of an aberrant, larger sized protein of around 28 kDa. Protein expression was strongly reduced also in alveolar macrophages. The infant developed failure to thrive and tachypnea. Lung lavage, computer tomography, and histology showed typical signs of pulmonary alv... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102537 Thu, 10 Dec 2009 00:00:00 +0100 3102537 http://www.medworm.com/index.php?rid=3102536&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002451%26dopt%3DAbstract Authors: Huang K PMID: 20002451 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102536 Thu, 10 Dec 2009 00:00:00 +0100 3102536 http://www.medworm.com/index.php?rid=3102535&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002452%26dopt%3DAbstract Authors: Badura-Stronka M, Jamsheer A, Materna-Kiryluk A, Sowińska A, Kiryluk K, Budny B, Latos-Bieleńska A Cabezas syndrome (MIM 300354) is a recently identified syndromic form of X-linked mental retardation (XLMR) caused by mutations in the CUL4B gene. In total, nine XLMR families carrying mutations in the CUL4B gene have been described to date. Here, we present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The mutation was inherited from an asymptomatic mother and was present in all three affected brothers. The patients presented ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102535 Thu, 10 Dec 2009 00:00:00 +0100 3102535 http://www.medworm.com/index.php?rid=3102534&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002453%26dopt%3DAbstract Authors: Panchal S, Bordeleau L, Poll A, Llacuachaqui M, Shachar O, Ainsworth P, Armel S, Eisen A, Sun P, Narod SA Women who carry BRCA mutations are advised to begin breast cancer screening based on the age-specific risks of breast cancer development. It is not clear to what extent the family history of breast cancer influences age of onset. We evaluated the use of family history to predict the age of breast cancer onset in BRCA mutation carriers. Pedigrees from an Ontario-based registry were reviewed to identify the index case of breast cancer (most recent diagnosis) and other family cases of breast cancer. The youngest age of breast cancer diagnosis and mean age at breast cancer diagnosis in the other family cases were compared to the age of onset in the index case. The 260 BRCA1 an... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102534 Thu, 10 Dec 2009 00:00:00 +0100 3102534 http://www.medworm.com/index.php?rid=3102533&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002454%26dopt%3DAbstract We present a comparison between the clinical presentations of patients with mutations that are predicted to produce truncated protein (nonsense/frameshift mutations) to those that result in loss of protein expression (large deletions) to elucidate further genotype-phenotype correlations in NF2. Patients with nonsense/frameshift mutations have a younger age of diagnosis and a higher prevalence/proportion of meningiomas (p = 0.002, 0.014), spinal tumours (p = 0.004, 0.004) and non-VIII cranial nerve tumours (p = 0.006, 0.003). We also found younger age of diagnosis of vestibular schwannomas (p = 0.007), higher mean numbers of cutaneous lesions (p = 0.003) and spinal tumours (p = 0.006) in these patients. With respect to NF2 symptoms, we found younger age of onset of hearing loss (p = 0.010),... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102533 Thu, 10 Dec 2009 00:00:00 +0100 3102533 http://www.medworm.com/index.php?rid=3102532&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002455%26dopt%3DAbstract This study is a typical illustration of the difficult interpretation of causality of a very rare variant in neuropsychiatric disease and the challenge of genetic counselling in a particular family. PMID: 20002455 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102532 Thu, 10 Dec 2009 00:00:00 +0100 3102532 http://www.medworm.com/index.php?rid=3102531&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002456%26dopt%3DAbstract Authors: Bovolenta M, Rimessi P, Dolcini B, Ravani A, Ferlini A, Gualandi F PMID: 20002456 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102531 Thu, 10 Dec 2009 00:00:00 +0100 3102531 http://www.medworm.com/index.php?rid=3102530&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002457%26dopt%3DAbstract Authors: Moslehi R, Signore C, Tamura D, Mills JL, Digiovanna JJ, Tucker MA, Troendle J, Ueda T, Boyle J, Khan SG, Oh KS, Goldstein AM, Kraemer KH The effects of DNA repair and transcription gene abnormalities in human pre-natal life have never been studied. Trichothiodystrophy (TTD) is a rare (affected frequency of 10(-6)) recessive disorder caused by mutations in genes involved in nucleotide excision repair (NER) pathway and in transcription. Based on our novel clinical observations, we conducted a genetic epidemiologic study to investigate gestational outcomes associated with TTD. We compared pregnancies resulting in TTD-affected offspring (n = 24) with respect to abnormalities during their antenatal and neonatal periods to pregnancies resulting in their unaffected siblings (n = 18)... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102530 Thu, 10 Dec 2009 00:00:00 +0100 3102530 http://www.medworm.com/index.php?rid=3102529&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002458%26dopt%3DAbstract Authors: Wang H, Cui QQ, Sun K, Song L, Zou YB, Wang XJ, Jia L, Liu X, Gao S, Zhang CN, Hui RT PMID: 20002458 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102529 Thu, 10 Dec 2009 00:00:00 +0100 3102529 http://www.medworm.com/index.php?rid=3102528&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002459%26dopt%3DAbstract Authors: Fanciulli M, Petretto E, Aitman TJ Variation in gene copy number is increasingly recognized as a common, heritable source of inter-individual differences in genomic sequence. The role of copy number variation is well established in the pathogenesis of rare genomic disorders. More recently, germline and somatic copy number variation have been shown to be important pathogenic factors in a range of common diseases, including infectious, autoimmune and neuropsychiatric diseases and cancer. In this review, we describe the range of methods available for measuring copy number variants (CNVs) in individuals and populations, including the limitations of presently available assays, and highlight some key examples of common diseases in which CNVs have been shown clearly to have a pathoge... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102528 Thu, 10 Dec 2009 00:00:00 +0100 3102528 http://www.medworm.com/index.php?rid=3102527&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002460%26dopt%3DAbstract Authors: van der Vorm A, van der Laan AL, Borm G, Vernooij-Dassen M, Rikkert MO, van Leeuwen E, Dekkers W Most publications on the ethical aspects of genetic research into Alzheimer's Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modified Delphi study in two rounds was held to identify differences between groups of experts (i.e. clinicians, representatives of patient organisations, ethicists and persons with a commercial background). The strongest correlation was found between the opinions of ethicists and representatives of patient organisations (0.67) and between clinicians and ethicists (0.62). Moderate correlation... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102527 Thu, 10 Dec 2009 00:00:00 +0100 3102527 http://www.medworm.com/index.php?rid=3102526&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20002461%26dopt%3DAbstract Authors: Quintana E, Gort L, Busquets C, Navarro-Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P, We screened for PDHA1 mutations in 40 patients with biochemically demonstrated PDHc deficiency or strong clinical suspicion, and found changes with probable pathological significance in 20. Five patients presented new mutations: p.A169V, c.932_938del, c.1143_1144 ins24, c.1146_1159dup and c.510-30G> A, this latter is a new undescribed cause of exon 6 skipping. Another four mutations have been found, and previously reported, in our patients: p.H113D, p.P172L, p.Y243del and p.Y369Q. Eleven patients presented seven known mutations: p.R127Q, p.I166I, p.A198T, p.R263G, p.R302C, p.R378C and c.1142_1145dup. The latter three were found in more than one u... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3102526 Thu, 10 Dec 2009 00:00:00 +0100 3102526 http://www.medworm.com/index.php?rid=3030880&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19930150%26dopt%3DAbstract Authors: Kumar RA PMID: 19930150 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3030880 Fri, 27 Nov 2009 07:28:23 +0100 3030880 http://www.medworm.com/index.php?rid=3030879&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19930151%26dopt%3DAbstract Authors: Kumar RA PMID: 19930151 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3030879 Fri, 27 Nov 2009 07:28:21 +0100 3030879 http://www.medworm.com/index.php?rid=3030878&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19930152%26dopt%3DAbstract Authors: Kumar RA PMID: 19930152 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3030878 Fri, 27 Nov 2009 07:28:18 +0100 3030878 http://www.medworm.com/index.php?rid=3030877&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19930153%26dopt%3DAbstract Authors: Silveira EL, Elnecave RH, dos Santos EP, Moura V, Pinto EM, van der Linden Nader I, Mendonca BB, Bachega TA Neonatal screening for congenital adrenal hyperplasia (CAH) is useful in diagnosing salt wasting form (SW). However, there are difficulties in interpreting positive results in asymptomatic newborns. The main objective is to analyze genotyping as a confirmatory test in children with neonatal positive results. Patients comprised 23 CAH children and 19 asymptomatic infants with persistently elevated 17-hydroxyprogesterone (17OHP) levels. CYP21A2 gene was sequenced and genotypes were grouped according to the enzymatic activity of the less severe allele: A1 null, A2 < 2%, B 3-7%, C > 20%. Twenty-one children with neonatal symptoms and/or 17OHP levels > 80 ng/ml carri... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3030877 Fri, 27 Nov 2009 07:28:15 +0100 3030877 http://www.medworm.com/index.php?rid=3030876&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19930154%26dopt%3DAbstract Authors: Marlin S, Moizard MP, David A, Chaissang N, Raynaud M, Jonard L, Feldmann D, Loundon N, Denoyelle F, Toutain A X-linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non-syndromic hearing loss. To date, four loci for DFN have been identified and only one gene, POU3F4 responsible for DFN3, has been cloned. In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic inner ear malformation. The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onset hearing loss is found in three patients. Only one has an inner ear malformation. No genotype/phenotype correlation is identified. PMID: 19930154 [PubMed - i... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3030876 Fri, 27 Nov 2009 07:28:13 +0100 3030876 http://www.medworm.com/index.php?rid=3030875&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19930416%26dopt%3DAbstract This study investigated Australian opinion leaders' views on the issues arising from such 'treatment-focused' genetic testing. Semi-structured interviews with 34 opinion leaders working in cancer genetics were undertaken. Interviewees acknowledged the introduction of treatment-focused DNA testing has the potential to positively transform the management of breast cancer patients, but were concerned that certain ethical and logistical issues have yet to be addressed. These include decision-making and consent, the familial nature of genetic information, and the management of genetics services within familial cancer clinics in the public hospital system in Australia. Service providers will need to have policies and strategies for managing the increased demand. It will also be necessary to incl... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3030875 Mon, 23 Nov 2009 00:00:00 +0100 3030875 http://www.medworm.com/index.php?rid=3030874&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19930417%26dopt%3DAbstract Authors: Blanco A, Graña B, Fachal L, Santamariña M, Cameselle-Teijeiro J, Ruíz-Ponte C, Carracedo A, Vega A PMID: 19930417 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3030874 Mon, 23 Nov 2009 00:00:00 +0100 3030874 http://www.medworm.com/index.php?rid=3030873&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19930418%26dopt%3DAbstract Authors: Delatycki M, Wolthuizen M, Collins V, Varley E, Craven J, Allen K, Aitken M, Bond L, Lockhart P, Wilson G, Macciocca I, Metcalfe S Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disorder that can result in severe morbidity including hepatic cirrhosis. Predisposition to HH is easily diagnosed and morbidity is preventable by maintaining normal body iron and thus calls have been made to introduce community screening. The current study has been designed to assess the acceptability and feasibility of HH screening in high schools. Students (mostly 15-16 years of age) watched a purpose-designed DVD for education about HH. Those with parental consent were then offered cheek-brush screening for C282Y. Students completed a questionnaire pr... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3030873 Mon, 23 Nov 2009 00:00:00 +0100 3030873 http://www.medworm.com/index.php?rid=3000266&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19912261%26dopt%3DAbstract Authors: Mazarei G VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification Ramachandran et al. (2009) Cell 137: 235-246. PMID: 19912261 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3000266 Wed, 11 Nov 2009 00:00:00 +0100 3000266 http://www.medworm.com/index.php?rid=3000265&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19912262%26dopt%3DAbstract Authors: Petkau TL Mutations in the mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia Guernsey et al. (2009) Nature Genetics 41: 6. PMID: 19912262 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3000265 Wed, 11 Nov 2009 00:00:00 +0100 3000265 http://www.medworm.com/index.php?rid=3000264&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19912263%26dopt%3DAbstract Authors: Sanders SS A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Tarpey et al. (2009) Nature Genetics 41: 535-543. PMID: 19912263 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3000264 Wed, 11 Nov 2009 00:00:00 +0100 3000264 http://www.medworm.com/index.php?rid=3000263&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19912264%26dopt%3DAbstract BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin. Clin Genet. 2009 Nov 11; Authors: Infante M, Durán M, Acedo A, Pérez-Cabornero L, Sanz D, García-González M, Beristain E, Esteban-Cardeñosa E, de la Hoya M, Teulé A, Vega A, Tejada MI, Lastra E, Miner C, Velasco EA Infante M, Durán M, Acedo A, Pérez-Cabornero L, Sanz DJ, García-González M, Beristain E, Esteban-Cardeñosa E, de la Hoya M, Teulé A, Vega A, Tejada M-I, Lastra E, Miner C, Velasco EA. BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin. The distribut... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3000263 Wed, 11 Nov 2009 00:00:00 +0100 3000263 http://www.medworm.com/index.php?rid=3000262&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19912265%26dopt%3DAbstract In conclusion, our study shows for the first time that germ line mosaicism may occur in schwannomatosis, which has implications for genetic counseling in this disease. PMID: 19912265 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=3000262 Wed, 11 Nov 2009 00:00:00 +0100 3000262 http://www.medworm.com/index.php?rid=2940469&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863560%26dopt%3DAbstract Authors: Ghadirian P, Robidoux A, Zhang P, Royer R, Akbari M, Zhang S, Fafard E, Costa M, Martin G, Potvin C, Patocskai E, Larouche N, Younan R, Nassif E, Giroux S, Narod SA, Rousseau F, Foulkes WD In an ethnically-homogeneous population, it is valuable to identify founder mutations in cancer-predisposing genes. Founder mutations have been found in four breast-cancer-predisposing genes in French-Canadian breast cancer families. The frequencies of the mutant alleles have been measured neither in a large series of unselected breast cancer patients from Quebec, nor in healthy controls. These estimates are necessary to measure their contribution to the hereditary burden of breast cancer in Quebec and to help develop genetic screening policies which are appropriate for the province. We stud... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940469 Fri, 30 Oct 2009 12:54:13 +0100 2940469 http://www.medworm.com/index.php?rid=2940468&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863561%26dopt%3DAbstract We report on sisters, born to consanguineous parents, with CID, facial dysmorphism, developmental delay, optic atrophy, myoclonic seizures, and skeletal anomalies. To the best of our knowledge, this is a hitherto new syndrome with most probably autosomal recessive inheritance and unknown etiology. PMID: 19863561 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940468 Fri, 30 Oct 2009 12:54:10 +0100 2940468 http://www.medworm.com/index.php?rid=2940467&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863562%26dopt%3DAbstract Authors: Bonyadi M, Esmaeili M, Jalali H, Somi MH, Ghaffari A, Rafeey M, Sakha K, Lotfalizadeh N, Pourhassan A, Khoshbaten M, Ardalan MR, Laghaeian N Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder with more than 60 disease-associated mutations in the responsible gene, MEFV. In the present study, we determined 15 MEFV mutations in Iranian Azeri Turkish FMF patients. Five hundred and twenty-four unrelated patients were tested for 15 known mutations in the MEFV gene using amplification refractory mutation system-polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism methods. Thirty-five different genotypes were characterized among the studied patients. Of the alleles investigated, the most common mutation wa... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940467 Fri, 30 Oct 2009 12:54:08 +0100 2940467 http://www.medworm.com/index.php?rid=2940466&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863563%26dopt%3DAbstract Authors: Macías-Vidal J, Rodés M, Hernández-Pérez JM, Vilaseca MA, Coll MJ PMID: 19863563 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940466 Fri, 30 Oct 2009 12:54:05 +0100 2940466 http://www.medworm.com/index.php?rid=2940477&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863545%26dopt%3DAbstract This article discusses the ethical and legal arguments in favour of and against three options: genetic testing of the deceased victim only; counselling of relatives before testing the victim; counselling restricted to relatives of victims who tested positive for mutations of serious and preventable diseases. Legal cases are mentioned that pertain to the duty of geneticists and other physicians to warn relatives. Although the claim for a legal duty is tenuous, recent publications and guidelines suggest that geneticists and others involved in the multidisciplinary approach of sudden death (SD) cases may, nevertheless, have an ethical duty to inform relatives of SD victims. Several practical problems remain pertaining to the costs of testing, the counselling and to the need to obtain permissi... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940477 Fri, 23 Oct 2009 00:00:00 +0100 2940477 http://www.medworm.com/index.php?rid=2940476&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863546%26dopt%3DAbstract In this report, we summarize the literature on PORCN mutations and associated phenotypes. PMID: 19863546 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940476 Fri, 23 Oct 2009 00:00:00 +0100 2940476 http://www.medworm.com/index.php?rid=2940475&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863547%26dopt%3DAbstract Authors: Lévesque S, Dombrowski C, Morel ML, Rehel R, Côté JS, Bussières J, Morgan K, Rousseau F Lévesque S, Dombrowski C, Morel M-L, Rehel R, Côté J-S, Bussières J, Morgan K, Rousseau F. Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population. To study the instability of FMR1 triplet repeats in the general population, we screened a prospective sample of 24,449 anonymized mother-offspring pairs and analyzed transmissions of intermediate-size (45-54 triplets) and premutation-size (55-200 triplets) alleles. We screened all mothers for alleles >/= 45 triplets by Southern blot and studied transmission of 545 maternal alleles to their offspring using polymerase chain reaction. Out... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940475 Fri, 23 Oct 2009 00:00:00 +0100 2940475 http://www.medworm.com/index.php?rid=2940474&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863548%26dopt%3DAbstract We describe a 32-year-old woman with multiple ganglioneuromas of the cervical, dorsal and lumbar spine associated with a few café-au-lait spots and subcutaneous nodules. The patient lacked other NF1 stigmata, such as freckling, Lisch nodules and cutaneous neurofibromas. Although our patient did not fulfill the NF1 diagnostic criteria, molecular diagnosis revealed a pathogenic mutation in the NF1 gene. Approximately 30 patients affected by NF1 and ganglioneuromas have been reported: in all these individuals, NF1 diagnosis was made according to the clinical diagnostic criteria and no patients have molecular diagnosis. Therefore, this is the first case with multiple spinal ganglioneuromas associated with a pathogenic NF1 mutation. PMID: 19863548 [PubMed - as supplied by publisher] (S... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940474 Fri, 23 Oct 2009 00:00:00 +0100 2940474 http://www.medworm.com/index.php?rid=2940473&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863549%26dopt%3DAbstract Authors: Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM,Blennow E. Detailed molecular and clinical characterization of three patients with 21q deletions. We have investigated three patients with 21q deletions, two with developmental delay, dysmorphic features and internal organ malformations, and one with cognitive function within the normal range but with some deficits in gross and fine motor development. All aberrations were characterized by array-comparative genomic hybridization (array-CGH). In addition, extensive fluorescence in situ hybridization (FISH) mapping on metaphase chromosomes and mechanically stretched chromosome... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940473 Fri, 23 Oct 2009 00:00:00 +0100 2940473 http://www.medworm.com/index.php?rid=2940472&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863550%26dopt%3DAbstract Authors: Yoo EH, Woo H, Ki CS, Lee HJ, Kim DK, Kang IS, Park P, Sung K, Lee CS, Chung TY, Moon JR, Han H, Lee ST, Kim JW Yoo E-H, Woo H, Ki C-S, Lee HJ, Kim D-K, Kang I-S, Park P, Sung K, Lee CS, Chung T-Y, Moon JR, Han H, Lee S-T, Kim J-W. Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Although clinical and genetic analyses have been performed in various populations, there have been few studies in Korea. The aim of this study was to investigate the clinical characteristics and genetic background of Korean patients with MFS. In 39 Korean patients with MFS who met the Gh... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940472 Fri, 23 Oct 2009 00:00:00 +0100 2940472 http://www.medworm.com/index.php?rid=2940471&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863551%26dopt%3DAbstract Authors: Barahona-Dussault C, Benito B, Campuzano O, Iglesias A, Leung TL, Robb L, Talajic M, Brugada R Barahona-Dussault C, Benito B, Campuzano O, Iglesias A, Leung TL, Robb L, Talajic M, Brugada R. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia: experience from a single center prospective cohort. In a cohort of patients with confirmed or suspected arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), genetic testing is useful in confirming the diagnosis, particularly in individuals who do not completely fulfil Task Force criteria for the disease, thereby also enabling the adoption of preventive measures in family members. Due to the high percentage of novel mutations that are expected to be identified in ARVC/D, the use of genetic s... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940471 Fri, 23 Oct 2009 00:00:00 +0100 2940471 http://www.medworm.com/index.php?rid=2940470&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19863552%26dopt%3DAbstract Authors: Poulsen ML, Budtz-Jørgensen E, Bisgaard ML Poulsen MLM, Budtz-Jørgensen E, Bisgaard ML. Surveillance in von Hippel-Lindau disease (vHL). von Hippel-Lindau disease (vHL) is a hereditary multisystem cancer syndrome requiring lifelong prophylactic surveillance. Current surveillance recommendations rely on best medical judgement and no evidence of effect exists. We aimed to evaluate the capability of surveillance in manifestation detection, before these turn symptomatic, in order to prevent disabling or even fatal outcomes. We focus on surveillance of central nervous system (CNS) hemangioblastomas, retinal hemangiomas and renal cell carcinoma (RCC) as these have the most severe consequences. On the basis of full medical records from 54 living vHL-mutation carriers, risks... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2940470 Fri, 23 Oct 2009 00:00:00 +0100 2940470 http://www.medworm.com/index.php?rid=2923790&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19845690%26dopt%3DAbstract Authors: Moya-Quiles MR, Mondéjar-López P, Pastor-Vivero MD, González-Gallego I, Juan-Fita MJ, Egea-Mellado JM, Carbonell P, Casals T, Fernández-Sánchez A, Sánchez-Solís M, Glover G PMID: 19845690 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2923790 Tue, 20 Oct 2009 23:00:00 +0100 2923790 http://www.medworm.com/index.php?rid=2923789&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19845691%26dopt%3DAbstract We present the clinical and molecular characterization of a family displaying features of both NS and NF1, with complete absence of neurofibromas. To investigate the etiology of the phenotype, mutational analysis of NF1 was conducted, revealing a novel missense mutation in exon 24, p.L1390F, affecting the GAP-domain. Additional RAS-MAPK pathway genes were examined, but no additional mutations were identified. We confirm that NF1 mutations are involved in the etiology of NFNS. Furthermore, based on our results and previous studies we suggest that evaluation of the GAP-domain of NF1 should be prioritized in NFNS. PMID: 19845691 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2923789 Tue, 20 Oct 2009 23:00:00 +0100 2923789 http://www.medworm.com/index.php?rid=2916837&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19843100%26dopt%3DAbstract Conclusions: When present in trans with a CF-causing mutation, D1152H causes significant pulmonary disease, but all subjects had prolonged survival. PMID: 19843100 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2916837 Wed, 14 Oct 2009 23:00:00 +0100 2916837 http://www.medworm.com/index.php?rid=2916836&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19843101%26dopt%3DAbstract Authors: Taylor A, Patel K, Tsedeke J, Humphries SE, Norbury G PMID: 19843101 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2916836 Wed, 14 Oct 2009 23:00:00 +0100 2916836 http://www.medworm.com/index.php?rid=2887071&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19817772%26dopt%3DAbstract Authors: Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J-P, Jouk P-S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon J-B, Huet F, Thauvin-Robinet C. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. The oral-facial-digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digi... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2887071 Wed, 07 Oct 2009 23:00:00 +0100 2887071 http://www.medworm.com/index.php?rid=2887070&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19817773%26dopt%3DAbstract Authors: McCahon D, Holder R, Metcalfe A, Clifford S, Gill P, Cole T, Sleightholme HV, Wilson S McCahon D, Holder R, Metcalfe A, Clifford S, Gill P, Cole T, Sleightholme HV, Wilson S. General practitioners' attitudes to assessment of genetic risk of common disorders in routine primary care. In 2003, the UK Department of Health set out the genetics white paper, a plan for action and investment with particular emphasis on integration of genetic health care into primary care. Since the delivery of the genetics white paper, there has been little exploration of UK primary care doctors' attitudes towards extending their role to include provision of routine genetics services. We explored explore general practitioners' (GPs) attitudes towards provision of genetic health care including routine ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2887070 Wed, 07 Oct 2009 23:00:00 +0100 2887070 http://www.medworm.com/index.php?rid=2876917&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19807735%26dopt%3DAbstract Authors: Yu Y, Xu C, Pan X, Ren H, Wang W, Meng X, Huang F, Chen N Yu Y, Xu C, Pan X, Ren H, Wang W, Meng X, Huang F, Chen N. Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome. Mutations in the gene CLCNKB encoding the ClC-Kb chloride channel causes classic Bartter syndrome, which is characterized by hypokalaemic metabolic alkalosis, renal salt loss, hyper-reninaemic hyperaldosteronism and normal blood pressure. We aimed to investigate the underlying mutations in CLCNKB in two Chinese patients with classic Bartter syndrome and then test the effect of the mutations on ClC-Kb chloride channel activity. Mutation analysis of CLCNKB was performed by polymerase chain reaction (PCR) direct sequencing. Expression of t... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2876917 Mon, 05 Oct 2009 23:00:00 +0100 2876917 http://www.medworm.com/index.php?rid=2876916&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19807736%26dopt%3DAbstract Authors: Córdova-Fletes C, Rademacher N, Müller I, Mundo-Ayala J, Morales-Jeanhs E, García-Ortiz J, León-Gil A, Rivera H, Domínguez M, Kalscheuer V PMID: 19807736 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2876916 Mon, 05 Oct 2009 23:00:00 +0100 2876916 http://www.medworm.com/index.php?rid=2876915&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19807737%26dopt%3DAbstract Authors: Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited lysosomal storage diseases and the prototype of childhood onset neurodegenerative disorders. To date, 10 NCL entities (CLN1-CLN10) are known and characterized by accumulation of autofluorescent storage material, age of onset and clinical symptoms. CLN8 was first identified as the causative gene for a late-onset form with progressive epilepsy and mental retardation in Finnish patients. In addition, CLN8 phenotypes were described in Turkish, Israel... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2876915 Mon, 05 Oct 2009 23:00:00 +0100 2876915 http://www.medworm.com/index.php?rid=2876914&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19807738%26dopt%3DAbstract Authors: Ajibola A, Omar S, Friderici K PMID: 19807738 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2876914 Mon, 05 Oct 2009 23:00:00 +0100 2876914 http://www.medworm.com/index.php?rid=2876913&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19807739%26dopt%3DAbstract In conclusion, in this first series of APECED in Indians, we detected AIRE mutations previously reported in Caucasians, as well as unique mutations. Of these, p.V80G is possibly an ancestral mutation in an in-bred community. PMID: 19807739 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2876913 Mon, 05 Oct 2009 23:00:00 +0100 2876913 http://www.medworm.com/index.php?rid=2876912&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19807740%26dopt%3DAbstract Authors: Catelani A, Krepischi A, Kim C, Kok F, Otto P, Auricchio M, Mazzeu J, Uehara D, Costa S, Knijnenburg J, Tabith A, Vianna-Morgante A, Mingroni-Netto R, Rosenberg C Catelani ALPM, Krepischi ACV, Kim CA, Kok F, Otto PA, Auricchio MTBM, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith Jr A, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Chromosome imbalances in syndromic hearing loss. The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were detected in eight patients, four de novo imbalances and four inherited from a... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2876912 Mon, 05 Oct 2009 23:00:00 +0100 2876912 http://www.medworm.com/index.php?rid=2876911&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19807741%26dopt%3DAbstract Authors: Borgatti R, Marelli S, Bernardini L, Novelli A, Cavallini A, Tonelli A, Bassi MT, Dallapiccola B PMID: 19807741 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2876911 Mon, 05 Oct 2009 23:00:00 +0100 2876911 http://www.medworm.com/index.php?rid=2876910&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19807742%26dopt%3DAbstract Authors: Nasti S, Pastorino L, Bruno W, Gargiulo S, Battistuzzi L, Zavattaro E, Leigheb G, De Francesco V, Tulli A, Mari F, Scarrà GB, Ghiorzo P PMID: 19807742 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2876910 Mon, 05 Oct 2009 23:00:00 +0100 2876910 http://www.medworm.com/index.php?rid=2876909&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19807743%26dopt%3DAbstract Authors: Sambuughin N, Capacchione J, Blokhin A, Bayarsaikhan M, Bina S, Muldoon S Sambuughin N, Capacchione J, Blokhin A, Bayarsaikhan M, Bina S, Muldoon S. The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. It has been suggested that exertional rhabdomyolysis (ER) and malignant hyperthermia (MH) are related syndromes. We hypothesize that patients with unexplained ER harbor mutations in the ryanodine receptor gene type 1 (RYR1), a primary gene implicated in MH, and therefore ER patients are at increased risk for MH. Although there are reported cases of MH in individuals of African descent, there are no data available on molecular characterization of these patients. We analyzed RYR1 in six, unrel... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2876909 Mon, 05 Oct 2009 23:00:00 +0100 2876909 http://www.medworm.com/index.php?rid=2876908&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19807744%26dopt%3DAbstract Authors: López-Garrido MP, Campos-Mollo E, Harto MA, Escribano J López-Garrido M-P, Campos-Mollo E, Harto M-A, Escribano J. Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. Primary congenital glaucoma (PCG), a rare, severe and blinding disease, usually results from mutations in the CYP1B1 gene located in chromosome 2p22.2. Uniparental isodisomy (UPID) is also a rare condition in which a diploid offspring carries two identical copies of a single parental chromosome. By DNA sequence analysis, we found that a proband (female newborn) affected by PCG was homozygous for the null-allele F261L of the CYP1B1 gene. Her father was a heterozygous carrier for this mutation, and unexpectedly her mother carried only the G168... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2876908 Mon, 05 Oct 2009 23:00:00 +0100 2876908 http://www.medworm.com/index.php?rid=2858029&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19796183%26dopt%3DAbstract Authors: Loesch DZ, Khaniani MS, Slater HR, Rubio JP, Bui QM, Kotschet K, D'Souza W, Venn A, Kalitsis P, Choo AK, Burgess T, Johnson L, Evans A, Horne M LoeschDZ, KhanianiMS, SlaterHR, RubioJP, BuiQM, KotschetK, D'SouzaW, VennA, KalitsisP, ChooAKH, BurgessT, JohnsonL, EvansA, HorneM. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Fragile X-associated tremor/ataxia syndrome (FXTAS) affects older males carrying premutation, that is, expansions of the CGG repeat (in the 55-200 range), in the FMR1 gene. The neurological changes are linked to the excessive FMR1 messenger RNA (mRNA), becoming toxic through a 'gain-of-function'. Because elevated levels of this mRNA are also found in carriers of the smaller expansion (grey zone) alleles, ranging from 40 to 54... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2858029 Wed, 30 Sep 2009 23:00:00 +0100 2858029 http://www.medworm.com/index.php?rid=2858028&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19796184%26dopt%3DAbstract Authors: Brakensiek K, Fegbeutel C, Mälzer M, Strüber M, Kreipe H, Stuhrmann M PMID: 19796184 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2858028 Wed, 30 Sep 2009 23:00:00 +0100 2858028 http://www.medworm.com/index.php?rid=2858027&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19796185%26dopt%3DAbstract Authors: Carvalho DR, Navarro MM, Martins BJ, Coelho KE, Mello WD, Takata RI, Speck-Martins CE Carvalho DR, Navarro MMM, Martins BJAF, Coelho KEFA, Mello WD, Takata RI, Speck-Martins CE. Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disorder reported worldwide. A specific heterozygous mutation (c.617G> A; p.R206H) in the activin A type I receptor gene (ACVR1) is regarded as the genetic cause of FOP in all classically affected individuals worldwide. However, a few patients with FOP variants harbor distinct mutations in ACVR1. We screened a group of FOP Brazilian population for mutations in ACVR1. Of 16 patients with a classic FOP phenotype (10 males and 6 females, age ran... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2858027 Wed, 30 Sep 2009 23:00:00 +0100 2858027 http://www.medworm.com/index.php?rid=2858026&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19796186%26dopt%3DAbstract Authors: Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N PMID: 19796186 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2858026 Wed, 30 Sep 2009 23:00:00 +0100 2858026 http://www.medworm.com/index.php?rid=2858025&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19796187%26dopt%3DAbstract In this report, we describe a patient with a de novo BRCA2 gene mutation (5301insA) who developed early onset breast cancer with no strong family history of the disease. Only three similar instances have been reported previously. Subsequent site-specific analysis in her parents showed that neither carried the mutation previously identified in their daughter. Various possible explanations for this finding were excluded. Paternity was confirmed using 13 highly polymorphic markers, thereby illustrating that the patient carried a de novo mutation in the BRCA2 gene. The 5301insA mutation has been well described and reported many times in the Breast Cancer Information Core online Breast Cancer Mutation database. This finding illustrates the importance of determining the incidence of de novo BRCA... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2858025 Wed, 30 Sep 2009 23:00:00 +0100 2858025 http://www.medworm.com/index.php?rid=2858024&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19796188%26dopt%3DAbstract Authors: Faiyaz-Ul-Haque M, Al-Jefri A, Abalkhail HA, Toulimat M, Al-Muallimi MA, Pulicat MS, Gaafar A, Alaiya AA, Al-Dayel F, Peltekova I, Zaidi SH PMID: 19796188 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2858024 Wed, 30 Sep 2009 23:00:00 +0100 2858024 http://www.medworm.com/index.php?rid=2852972&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19793304%26dopt%3DAbstract Authors: Liu J, Krantz ID Cornelia de Lange syndrome (CdLS) (OMIM #122470, #300590 and #610759) is a dominant genetic disorder with multiple organ system abnormalities which is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Mutations in three cohesin proteins, a key regulator of cohesin, NIPBL, and two structural components of the cohesin ring SMC1A and SMC3, etiologically account for about 65% of individuals with CdLS. Cohesin controls faithful chromosome segregation during the mitotic and meiotic cell cycles. Multiple proteins in the cohesin pathway are also involved in additional fundamental biological events such as double-strand DNA break repair and long-ran... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2852972 Wed, 30 Sep 2009 23:00:00 +0100 2852972 http://www.medworm.com/index.php?rid=2852971&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19793305%26dopt%3DAbstract Discussion must primarily focus on the conditions of exercising due caution in and the dynamics of PGD. PMID: 19793305 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2852971 Wed, 30 Sep 2009 23:00:00 +0100 2852971 http://www.medworm.com/index.php?rid=2852970&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19793306%26dopt%3DAbstract Authors: Van Raamsdonk CD All epidermal appendages, including hair, teeth, and nails, begin as a thickening of the ectoderm, called a placode. The placode arises from a primary induction signal that is sent from the underlying mesenchyme to the overlying epidermis. In mammals, the precise arrangement of hair follicles in the skin is due to the amount and distribution of signals that promote and inhibit hair placode formation. Continued development of a hair follicle after placode formation requires a complex cross-talk between the mesenchyme and epidermis. Here, I will review recent studies in humans and mice that have increased our understanding of the role of these signaling pathways in normal development and in hereditary hair loss syndromes. The study of normal hair development may... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2852970 Wed, 30 Sep 2009 23:00:00 +0100 2852970 http://www.medworm.com/index.php?rid=2852969&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19793307%26dopt%3DAbstract Authors: Metzler M PMID: 19793307 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2852969 Wed, 30 Sep 2009 23:00:00 +0100 2852969 http://www.medworm.com/index.php?rid=2852968&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19793308%26dopt%3DAbstract Authors: Metzler M PMID: 19793308 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2852968 Wed, 30 Sep 2009 23:00:00 +0100 2852968 http://www.medworm.com/index.php?rid=2852967&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19793309%26dopt%3DAbstract Authors: Metzler M PMID: 19793309 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2852967 Wed, 30 Sep 2009 23:00:00 +0100 2852967 http://www.medworm.com/index.php?rid=2852966&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19793310%26dopt%3DAbstract In this study, we present four patients who implicate microcephalin 1 (MCPH1) in band 8p23.1 as an ASD susceptibility gene. Patient 1 was a girl with a syndromic form of autistic disorder satisfying the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Oligonucleotide aCGH (oaCGH) showed that she had a classic inv dup del(8)(qter-> p23.1::p23.1-> p21.2) containing at least three candidate genes; MCPH1 and DLGAP2 within the 6.9-Mb terminal deletion and NEF3 within the concomitant 14.1-Mb duplication. Three further patients with MCPH1 copy number changes were found using single-nucleotide polymorphism (SNP) array analysis in a cohort of 54 families with ASD patients. Ou... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2852966 Wed, 30 Sep 2009 23:00:00 +0100 2852966 http://www.medworm.com/index.php?rid=2852965&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19793311%26dopt%3DAbstract We report 11 additional de novo mutations in CDKL5 in female patients. For the first time, the MLPA approach allowed the identification of a partial deletion encompassing the promoter and the first two exons of CDKL5. The 10-point mutations consist of five missenses (with recurrent amino acid changes at p.Ala40 and p.Arg178), four splicing variants and a 1-base pair duplication. We present a review of all mutated alleles published in the literature. In our study, the overall frequency of mutations in CDKL5 in women with early-onset seizures is around 8.6%, a result comparable with previous reports. Noteworthy, the CDKL5 mutation rate is high (28%) in women with early-onset seizures and IS. PMID: 19793311 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2852965 Wed, 30 Sep 2009 23:00:00 +0100 2852965 http://www.medworm.com/index.php?rid=2852964&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19793312%26dopt%3DAbstract In this study, 118 Latin American patients were examined for NCL using an integrated multidisciplinary program. This revealed two patients affected by CLN1 and nine by CLN2. Both CLN1 patients had a juvenile-onset phenotype with mutation studies of one patient demonstrating the known mutation p.Arg151X and a novel mutation in intron 3, c.363-3T>G. Six of the CLN2 patients presented with the 'classical' late-infantile phenotype. The remaining three patients, who were siblings, presented with a 'protracted' phenotype and had a higher level of residual TPP-1 activity than the 'classical' CLN2 patients. Genotype analysis of the TPP1 gene in the 'classical' CLN2 patients showed the presence of the known mutation p.Arg208X and the novel mutations p.Leu104X, p.Asp276Val, and p.Ala453Val. The s... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2852964 Wed, 30 Sep 2009 23:00:00 +0100 2852964 http://www.medworm.com/index.php?rid=2852963&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19793313%26dopt%3DAbstract We report 4 additional patients with KIDS and DWM, supporting the possibility that this is an association and not a coincidental finding. This also suggests that the GJB2 gene may have a role in other cases with DWM of, as yet, unknown etiology. PMID: 19793313 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2852963 Wed, 30 Sep 2009 23:00:00 +0100 2852963 http://www.medworm.com/index.php?rid=2852973&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19793111%26dopt%3DAbstract Authors: López-Garrido MP, Blanco-Marchite C, Sánchez-Sánchez F, López-Sánchez E, Chaqués-Alepuz V, Campos-Mollo E, Salinas-Sánchez A, Escribano J López-Garrido M-P, Blanco-Marchite C, Sánchez-Sánchez F, López-Sánchez E, Chaqués-Alepuz V, Campos-Mollo E, Salinas-Sánchez AS, Escribano J. Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma. Glaucoma is an inherited complex and heterogeneous disease, and one of the most prevalent causes of definitive blindness in the world. Recent reports have indicated that heterozygous mutations of the CYTOCHOROME P4501B1 (CYP1B1) gene are present in 4-10% of patients with primary open-angle glaucoma (POAG). To f... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2852973 Sun, 27 Sep 2009 23:00:00 +0100 2852973 http://www.medworm.com/index.php?rid=2809940&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19758376%26dopt%3DAbstract This study describes seven Arab families, in which 18 patients had APS1. In addition to the cardinal features of APS1, some patients exhibited alopecia, diabetes mellitus, nephrocalcinosis and other phenotypes associated with APS1. DNA sequencing of the AIRE gene of patients from this study identified four novel and one recurrent mutation. These mutations likely result in loss of AIRE function in the patients. In addition, it was noted that the non-pathogenic c.834C> G mutation (rs1800520, encoding for p.Ser278Arg) occurs with high incidence in the AIRE gene of Arab individuals. Furthermore, this investigation demonstrates inflammation of the hair follicles in APS1 patients with alopecia universalis. We conclude that Arab APS1 patients carry novel and recurrent mutations in the AIRE gen... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2809940 Mon, 14 Sep 2009 23:00:00 +0100 2809940 http://www.medworm.com/index.php?rid=2779460&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19737282%26dopt%3DAbstract We describe the clinical features of Chilean patients with 22q11 deletion syndrome and compare their findings with those reported in large European, Japanese and US series. Data were obtained from 208 patients from five medical centers. Mean age at diagnosis was 5.2 years, with a median of 2.3 years. Congenital heart defects were present in 59.6%, lower than other large series that averaged 75.8%. Palate abnormalities were present in 79%, higher than previous reports averaging 56%. Patients with congenital heart disease were diagnosed earlier (median 0.3 years of age) than those without heart defects (median 5.6 years) and had greater mortality attributable to the syndrome (9.8% vs 2.4%, respectively). The differences in frequencies of major anomalies may be due to growing awareness of mor... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2779460 Mon, 07 Sep 2009 23:00:00 +0100 2779460 http://www.medworm.com/index.php?rid=2779459&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19737283%26dopt%3DAbstract Authors: Chiang HS, Lu JF, Liu CH, Wu YN, Wu CC Chiang H-S, Lu J-F, Liu C-H, Wu Y-N, Wu C-C. CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis. As it is well established that an association exists between congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis gene mutations, we investigated CFTR(TG)m(T)n polymorphism within a Taiwanese population that exhibits a very low incidence of CF. Sixty-three patients with CBAVD and 86 age-matched normal control subjects were evaluated. Temporal temperature gradient gel electrophoresis was used for CFTR mutational analysis. No major CFTR mutation was found in the patient series. A single prominent CFTR mutation, IVS8-5T, was present; however, (50.8% of 63 cases an... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2779459 Mon, 07 Sep 2009 23:00:00 +0100 2779459 http://www.medworm.com/index.php?rid=2779458&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19737284%26dopt%3DAbstract Authors: Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, Minoshima S Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, Minoshima S. Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. Usher syndrome (USH) is an autosomal recessive disorder characterized by retinitis pigmentosa and hearing loss. USH type 2 (USH2) is the most common type of USH and is frequently caused by mutations in USH2A, which accounts for 74-90% of USH2 cases. This is the first study reporting the results of scanning for USH2A mutations in Japanese patients with USH2. In 8 of 10 unrelated patients, we identified 14 different mutations. Of these mutations, 11 were novel. Although the mutation spectrum that we identified differed from that for... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2779458 Mon, 07 Sep 2009 23:00:00 +0100 2779458 http://www.medworm.com/index.php?rid=2779457&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19737285%26dopt%3DAbstract Authors: Lv YL, Wang WM, Pan XX, Wang ZH, Chen N, Ye ZY, Xu J PMID: 19737285 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2779457 Mon, 07 Sep 2009 23:00:00 +0100 2779457 http://www.medworm.com/index.php?rid=2734783&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19703198%26dopt%3DAbstract Authors: PMID: 19703198 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2734783 Wed, 26 Aug 2009 21:50:27 +0100 2734783 http://www.medworm.com/index.php?rid=2734782&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19703199%26dopt%3DAbstract Authors: PMID: 19703199 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2734782 Wed, 26 Aug 2009 21:50:24 +0100 2734782 http://www.medworm.com/index.php?rid=2734781&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19703200%26dopt%3DAbstract Authors: PMID: 19703200 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2734781 Wed, 26 Aug 2009 21:50:22 +0100 2734781 http://www.medworm.com/index.php?rid=2734780&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19703201%26dopt%3DAbstract Authors: PMID: 19703201 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2734780 Wed, 26 Aug 2009 21:50:20 +0100 2734780 http://www.medworm.com/index.php?rid=2734779&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19703202%26dopt%3DAbstract Authors: PMID: 19703202 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2734779 Wed, 26 Aug 2009 21:50:18 +0100 2734779 http://www.medworm.com/index.php?rid=2734778&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19703203%26dopt%3DAbstract Authors: PMID: 19703203 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2734778 Wed, 26 Aug 2009 21:50:16 +0100 2734778 http://www.medworm.com/index.php?rid=2734777&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19703204%26dopt%3DAbstract Authors: PMID: 19703204 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2734777 Wed, 26 Aug 2009 21:50:14 +0100 2734777 http://www.medworm.com/index.php?rid=2734776&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19703205%26dopt%3DAbstract Authors: PMID: 19703205 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2734776 Wed, 26 Aug 2009 21:50:11 +0100 2734776 http://www.medworm.com/index.php?rid=2734775&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19703206%26dopt%3DAbstract Authors: PMID: 19703206 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2734775 Wed, 26 Aug 2009 21:50:09 +0100 2734775 http://www.medworm.com/index.php?rid=2734774&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19703207%26dopt%3DAbstract Authors: PMID: 19703207 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2734774 Wed, 26 Aug 2009 21:50:07 +0100 2734774 http://www.medworm.com/index.php?rid=2734773&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19703208%26dopt%3DAbstract Authors: PMID: 19703208 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2734773 Wed, 26 Aug 2009 21:50:04 +0100 2734773 http://www.medworm.com/index.php?rid=2712465&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19686284%26dopt%3DAbstract Authors: Wajid M, Ishii Y, Kurban M, Dua-Awereh MB, Shimomura Y, Christiano AM PMID: 19686284 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2712465 Sun, 16 Aug 2009 23:00:00 +0100 2712465 http://www.medworm.com/index.php?rid=2702755&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19673950%26dopt%3DAbstract Authors: Tosetto E, Ceol M, Mezzabotta F, Ammenti A, Peruzzi L, Caruso MR, Barbano G, Vezzoli G, Colussi G, Vergine G, Giordano M, Glorioso N, Degortes S, Soldati L, Sayer J, D'Angelo A, Anglani F PMID: 19673950 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2702755 Sun, 09 Aug 2009 23:00:00 +0100 2702755 http://www.medworm.com/index.php?rid=2702754&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19673951%26dopt%3DAbstract This report of parental SCN1A nonsense mutation mosaicism in familial Dravet syndrome suggests that mosaicism might be more common than previously suspected and emphasizes the importance of taking mosaicism into account in genetic counselling of Dravet syndrome and SCN1A mutations. Furthermore, whether the migraine of the mother could be influenced by her SCN1A mutation mosaicism is not known, but increased awareness of migraine in future studies of SCN1A related epilepsies could clarify this intriguing link between migraine and epilepsy. Selmer KK, Eriksson A-S, Brandal K, Egeland T, Tallaksen C, Undlien DE. Parental SCN1A mutation mosaicism in familial Dravet syndrome. PMID: 19673951 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2702754 Sun, 09 Aug 2009 23:00:00 +0100 2702754 http://www.medworm.com/index.php?rid=2702758&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19673947%26dopt%3DAbstract Authors: Huang K M/S: mutations in SYNGAP1 in autosomal non-syndromic mental retardation Hamdan et al. (2009) The New England Journal of Medicine 360: 599-605. PMID: 19673947 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2702758 Thu, 06 Aug 2009 23:00:00 +0100 2702758 http://www.medworm.com/index.php?rid=2702757&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19673948%26dopt%3DAbstract Authors: Ehrnhoefer DE Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease Gu et al. (2009) Nature 458: 1039-1044. PMID: 19673948 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2702757 Thu, 06 Aug 2009 23:00:00 +0100 2702757 http://www.medworm.com/index.php?rid=2702756&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19673949%26dopt%3DAbstract Authors: Ehrnhoefer DE Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening Maier et al. (2009) Human Molecular Genetics 18: 1612-1623. PMID: 19673949 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2702756 Thu, 06 Aug 2009 23:00:00 +0100 2702756 http://www.medworm.com/index.php?rid=2702753&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19673952%26dopt%3DAbstract Authors: Chou A, Boerkoel C, du Souich C, Rupps R PMID: 19673952 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2702753 Thu, 06 Aug 2009 23:00:00 +0100 2702753 http://www.medworm.com/index.php?rid=2696356&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19664000%26dopt%3DAbstract Authors: Hoyer J, Kraus C, Hammersen G, Geppert JP, Rauch A Cutis laxa is characterised by redundant, inelastic skin with deep wrinkling and additional variable systemic involvement. Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1 in a few families each. The female patient was born to healthy consanguineous parents. Pregnancy was remarkable for fetal overgrowth and oligohydramnios. The newborn girl showed extreme bradycardia and died perinatally. Apart from overgrowth, cutis laxa, arachnodactyly of hands and feet with contractures of the third to fifth finger, medial rotation of feet, spina bifida of the os sacrum, microcephaly and facial dysmorphism were noted. Autopsy showed collapsed lungs with hypoplasti... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2696356 Sun, 02 Aug 2009 23:00:00 +0100 2696356 http://www.medworm.com/index.php?rid=2696355&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19664001%26dopt%3DAbstract Authors: Castiglia D, Castori M, Pisaneschi E, Sommi M, Covaciu C, Zambruno G, Fischer J, Magnani C Harlequin ichthyosis (HI) is the most severe and often lethal form of congenital ichthyosis, characterized by abnormal desquamation and extreme skin thickening and hardening over the entire body. It is caused by recessive loss-of-function mutations in the ABCA12 gene located on chromosome 2q34. Here, we report a sporadic HI patient born prematurely due to severe growth delay and oligohydramnios. The diagnosis was confirmed by ABCA12 molecular analysis, which disclosed the novel homozygous mutation p.R287X. Microsatellite analysis and parental segregation study showed that the disease resulted from complete paternal isodisomy. In addition, chorionic villus karyotyping revealed a non-mosai... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2696355 Sun, 02 Aug 2009 23:00:00 +0100 2696355 http://www.medworm.com/index.php?rid=2684317&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19659891%26dopt%3DAbstract Authors: Brancati F, Bernardini L, Cavalcanti D, Romano C, Novelli A, Dallapiccola B PMID: 19659891 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2684317 Tue, 28 Jul 2009 23:00:00 +0100 2684317 http://www.medworm.com/index.php?rid=2684316&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19659892%26dopt%3DAbstract Authors: Lindquist S, Schwartz M, Batbayli M, Waldemar G, Nielsen J Autosomal dominantly transmitted Alzheimer's disease (AD) and frontotemporal dementia (FTD) are genetically heterogeneous disorders. To date, three genes have been identified in which mutations cause early-onset autosomal dominant inherited AD: APP, PSEN1, and PSEN2. Mutations in two genes on chromosome 17, the MAPT and the PGRN genes, are associated with autosomal dominant inherited FTD. The aim of this study was to characterize the mutation spectrum and describe genotype-phenotype correlations in families with inherited dementia. The identification of novel mutations and/or atypical genotype-phenotype correlations contributes to further characterizing the disorders. DNA-samples from the 90 index cases from a Danish r... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2684316 Tue, 28 Jul 2009 23:00:00 +0100 2684316 http://www.medworm.com/index.php?rid=2680702&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19656162%26dopt%3DAbstract Authors: Lee NC, Huang CH, Hwu WL, Chien YH, Chang YY, Chen CH, Ko TM PMID: 19656162 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2680702 Mon, 27 Jul 2009 23:00:00 +0100 2680702 http://www.medworm.com/index.php?rid=2680701&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19656163%26dopt%3DAbstract Authors: Goodheart M, Rose S, Hattermann-Zogg M, Smith B, De Young B, Buller R BRCA2 has been shown to play a significant role in hereditary ovarian carcinoma. Several cases of clear cell carcinoma (CCC) of the ovary containing BRCA2 mutations have been identified. We hypothesize that sequence variants of the BRCA2 gene are common in CCC of the ovary. Multiple methods were utilized to detect BRCA2 genetic alterations in a cohort of 13 ovarian CCC. These included an LOH analysis for copy number, real-time and methylation-specific polymerase chain reaction (PCR) to probe for BRCA2 promoter methylation, in addition to protein truncation testing (PTT) gel screening for nonsense BRCA2 mutations, and finally direct gene sequencing to either confirm the nonsense mutations or to detect candida... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2680701 Mon, 27 Jul 2009 23:00:00 +0100 2680701 http://www.medworm.com/index.php?rid=2680700&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19656164%26dopt%3DAbstract Authors: Seong MW, Cho S, Noh DY, Han W, Kim SW, Park CM, Park HW, Kim S, Kim J, Park S The BRCA1 and BRCA2 genes are the strongest susceptibility genes identified for breast cancer worldwide. However, BRCA1/BRCA2 have been incompletely investigated due to their large size and the genomic rearrangements that occasionally occur within them. Here we performed a comprehensive mutational analysis for BRCA1/BRCA2 in 206 Korean patients with breast cancer. We analyzed all exons and flanking regions of BRCA1/BRCA2 by direct sequencing and screened deletions or duplications involving BRCA1/BRCA2 by multiplex ligation-dependent probe amplification. We reconstructed haplotypes using intragenic single nucleotide polymorphisms (SNPs) to investigate the possibility of a founder effect among recurre... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2680700 Mon, 27 Jul 2009 23:00:00 +0100 2680700 http://www.medworm.com/index.php?rid=2674707&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19650862%26dopt%3DAbstract Authors: Waryah A, Rehman A, Ahmed Z, Bashir ZH, Khan S, Zafar A, Riazuddin S, Friedman T, Riazuddin S Autosomal recessive nonsyndromic hearing impairment (ARNSHI) segregating in three unrelated, large consanguineous Pakistani families (PKDF528, PKDF859 and PKDF326) is linked to markers on chromosome 12q14.2-q15. This novel locus is designated DFNB74. Maximum two-point limit of detection (LOD) scores of 5.6, 5.7 and 2.6 were estimated for markers D12S313,D12S83 and D12S75 at theta = 0 for recessive deafness segregating in these three families. Haplotype analyses identified a critical linkage interval of 5.35 cM (5.36 Mb) defined by D12S329 at 74.58 cM and D12S313 at 79.93 cM. DFNB74 is the second ARNSHI locus mapped to chromosome 12, but the physical intervals do not overlap with one a... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2674707 Thu, 23 Jul 2009 23:00:00 +0100 2674707 http://www.medworm.com/index.php?rid=2674706&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19650863%26dopt%3DAbstract Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS). Clin Genet. 2009 Jul 24; Authors: Scherber E, Beutel K, Ganschow R, Schulz A, Janka G, Stadt UZ PMID: 19650863 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2674706 Thu, 23 Jul 2009 23:00:00 +0100 2674706 http://www.medworm.com/index.php?rid=2674705&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19650864%26dopt%3DAbstract Authors: Slim R, Bagga R, Chebaro W, Srinivasan R, Agarwal N PMID: 19650864 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2674705 Thu, 23 Jul 2009 23:00:00 +0100 2674705 http://www.medworm.com/index.php?rid=2639789&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19624690%26dopt%3DAbstract Authors: Yu JE, Jeong SY, Yang JA, Park MS, Kim HJ, Yoon SH PMID: 19624690 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2639789 Thu, 16 Jul 2009 23:00:00 +0100 2639789 http://www.medworm.com/index.php?rid=2556534&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19558527%26dopt%3DAbstract In this study, we examined whether the polymorphism is associated with serum lipid and lipoprotein concentrations, as well as with subclinical atherosclerosis in Young Finns. The participants comprised 2041 men and women (aged 24-39 years) enrolled in the Cardiovascular Risk in Young Finns Study with complete data concerning the rs1800588 polymorphism and serum lipids concentration. All participants underwent an ultrasound examination for brachial artery flow-mediated vasodilatation (FMD) and carotid artery intima-media thickness (IMT) measurement. The marker of arterial elasticity, carotid artery compliance (CAC), was also calculated by means of ultrasound and concomitant brachial blood pressure measurements. In all subjects, serum total cholesterol (p < 0.001), HDL cholesterol (p = 0.... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2556534 Sun, 21 Jun 2009 23:00:00 +0100 2556534 http://www.medworm.com/index.php?rid=2556533&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19558528%26dopt%3DAbstract Authors: Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW. Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet 2009. (c) Blackwell Munksgaard, 2009 Array comparative genomic hybridization studies were performed to further characterize cytogenetic abnormalities found originally by karyotype and fluorescence in situ hybridization in five clinical cases of distal 10q deletions, including several with complex cytogenetic rearrangements and one with a partial male-to-female sex-reversal phe... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2556533 Sun, 21 Jun 2009 23:00:00 +0100 2556533 http://www.medworm.com/index.php?rid=2543510&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19538517%26dopt%3DAbstract We present data from a cohort of 611 patients referred with suspected heterozygous familial hypercholesterolaemia (FH) from five UK lipid clinics, who were initially screened for point mutations in LDLR and the common APOB and PCSK9 mutations. The 377 cases in whom no mutation was found were then screened for large rearrangements by multiplex ligation-dependent probe amplification (MLPA) analysis. A rearrangement was identified in 19 patients. This represents 7.5% of the total detected mutations of the cohort. Of these, the majority of mutations (12/19) were deletions of more than one exon, two were duplications of more than one exon and five were single exon deletions that need interpreting with care. Five rearrangements (26%) are previously unreported. We conclude that MLPA analysis is a... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2543510 Mon, 15 Jun 2009 23:00:00 +0100 2543510 http://www.medworm.com/index.php?rid=2543514&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19519683%26dopt%3DAbstract Authors: Subramony S, Nguyen T, Langford L, Lin X, Parent A, Zhang J PMID: 19519683 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2543514 Mon, 08 Jun 2009 23:00:00 +0100 2543514 http://www.medworm.com/index.php?rid=2543513&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19519794%26dopt%3DAbstract Authors: Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA. Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes. Preaxial polydactyly is a common limb malformation in humans with variable clinical expression. Different types of triphalangeal thumb-preaxial polydactyly phenotypes were mapped to the chromosome 7q36 region. We studied a large Turkish family of 69 individuals, of whom 22 individuals were affected. In all, 11 affected family members were clinically and radiologically evaluated. All affected individuals had a triphalangeal thumb and a preaxial (hypoplastic) extra digit bilaterally, wit... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2543513 Mon, 08 Jun 2009 23:00:00 +0100 2543513 http://www.medworm.com/index.php?rid=2543512&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19519795%26dopt%3DAbstract Authors: Cotarelo RP, Fano O, Raducu M, Peña A, Tarilonte P, Mateos F, Simón R, Cabello A, Cruces J PMID: 19519795 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2543512 Mon, 08 Jun 2009 23:00:00 +0100 2543512 http://www.medworm.com/index.php?rid=2543520&cid=s_33045_50_f&fid=33045&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19500117%26dopt%3DAbstract Authors: Lam A, Lai K, Chau A, Lo I, Lam S PMID: 19500117 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=2543520 Wed, 03 Jun 2009 23:00:00 +0100 2543520