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. Thu, 09 Feb 2012 09:43:30 +0100 http://www.medworm.com/index.php?rid=5593967&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%3D22239599%26dopt%3DAbstract Authors: Connell F, Kalidas K, Ostergaard P, Brice G, Murday V, Mortimer P, Jeffrey I, Jeffery S, Mansour S PMID: 22239599 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5593967 Mon, 16 Jan 2012 04:12:11 +0100 5593967 http://www.medworm.com/index.php?rid=5593968&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%3D22236068%26dopt%3DAbstract Authors: Szyf M Abstract DNA methylation is a chemical modification of DNA that confers upon identical sequences different identities that are reflected in different gene expression programming. DNA methylation has a well established role in cellular differentiation by providing a mechanism for one genome to express multiple phenotypes in a multicellular organism. Recent data points however to the possibility that in addition to the innate process of cellular differentiation, DNA methylation can serve as a genome adaptation mechanism; adapting genome function to changing environmental contexts including social environments. A critical time point for this process is early life when cues from the social and physical environments define life-long trajectories of physical and mental he... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5593968 Wed, 11 Jan 2012 05:00:00 +0100 5593968 http://www.medworm.com/index.php?rid=5593970&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%3D22233476%26dopt%3DAbstract Authors: Choong SS, Latiff ZA, Mohamed M, Lim LL, Chen KS, Vengidasan L, Razali H, Abdul Rahman EJ, Ariffin H, Abstract Li-Fraumeni syndrome (LFS) is a highly penetrant, autosomal dominant disorder where affected individuals carry a 50% risk of developing cancer before 30 years of age. It is most commonly associated with mutations in the tumour suppressor gene, TP53. Adrenocortical carcinoma (ACC) is a very rare paediatric cancer and up to 80% of affected children are found to carry germline TP53mutations. Hence, we propose using childhood ACC incidence as selection criteria for referral for TP53 mutation testing, independent of familial cancer history. Under the auspices of the Malaysian Society of Paediatric Haematology-Oncology, four eligible children diagnosed with ACC over a ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5593970 Tue, 10 Jan 2012 05:00:00 +0100 5593970 http://www.medworm.com/index.php?rid=5593969&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%3D22233509%26dopt%3DAbstract Authors: Esquilin JM, Takemoto CM, Green NS Abstract X chromosome inactivation is normally a random event that is regulated by the X chromosome itself. Rarely, females are affected by X-linked disorders from extremely skewed X-chromosome inactivation. Here we report a family with Hemophilia B with female expression through inherited X skewing that appears to be independent of either X chromosome. This finding suggests the possibility of a dominant autosomal contribution to inherited skewed X inactivation. PMID: 22233509 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5593969 Tue, 10 Jan 2012 05:00:00 +0100 5593969 http://www.medworm.com/index.php?rid=5593971&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%3D22220972%26dopt%3DAbstract Authors: Crow TJ Abstract The psychoses (schizophrenia and bipolar disorder) occur in all populations with approximately uniform incidence and sex-dependent age of onset. Core symptoms involve aspects of language; brain structural deviations are sex and hemisphere-related. Genetic predisposition is un- accounted for by linkage or association. The hypothesis is proposed that the "missing heritability" is epigenetic in form and generated in meiosis on a species-specific XY chromosomal template. A duplication from Xq21.3 to Yp11.2 that occurred 6 million years ago (MYA) is proposed as critical to hominin evolution. Within this block of homology the Protocadherin11XY gene pair is expressed as a cell surface adhesion factor in both X and Y forms; it has undergone a series of coding chan... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5593971 Wed, 04 Jan 2012 05:00:00 +0100 5593971 http://www.medworm.com/index.php?rid=5504074&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%3D22150416%26dopt%3DAbstract Authors: Dutra E, Chen IP, McGregor T, Ranells J, Reichenberger E PMID: 22150416 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5504074 Thu, 15 Dec 2011 22:54:47 +0100 5504074 http://www.medworm.com/index.php?rid=5504073&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%3D22150417%26dopt%3DAbstract Authors: Cho S, Park HD, Lee YW, Ki CS, Lee SY, Sohn Y, Park S, Kim S, Ji S, Kim S, Choi E, Kim C, Ko AR, Paik KH, Lee D, Jin DK PMID: 22150417 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5504073 Thu, 15 Dec 2011 22:54:38 +0100 5504073 http://www.medworm.com/index.php?rid=5504072&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%3D22150418%26dopt%3DAbstract Authors: Bartoli M, Nègre P, Wein N, Bourgeois P, Pécheux C, Lévy N, Krahn M PMID: 22150418 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5504072 Thu, 15 Dec 2011 22:54:29 +0100 5504072 http://www.medworm.com/index.php?rid=5504076&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%3D22149989%26dopt%3DAbstract Authors: Chahwan C, Chahwan R Abstract Aicardi-Goutières Syndrome (AGS) is a hereditary neurodegenerative disorder characterized mainly by early-onset progressive encephalopathy, concomitant with an increase in interferon-α (IFN-α) levels in the cerebrospinal fluid (CSF). Although it was initially mistaken for intra-uterine viral infections, AGS has now been genetically attributed to a lack of adequate processing of cellular nucleic acid debris, which culminates in the perpetual trigger of the innate and acquired immune responses. Although the exact mechanisms governing AGS are not fully understood, significant strides have been recently achieved in better characterizing the disorder and the molecular functions of the five known proteins found mutated in AGS. Studies have now un... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5504076 Mon, 12 Dec 2011 05:00:00 +0100 5504076 http://www.medworm.com/index.php?rid=5504075&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%3D22150066%26dopt%3DAbstract Authors: Aminoff A, Gunnar E, Barbaro M, Mannila MN, Duponchel C, Tosi M, Robinson KL, Hernell O, Ehrenborg E PMID: 22150066 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5504075 Fri, 09 Dec 2011 05:00:00 +0100 5504075 http://www.medworm.com/index.php?rid=5504070&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%3D22151007%26dopt%3DAbstract Authors: Hocaoglu MB, Gaffan EA, Ho AK Abstract Huntington's disease (HD) is a genetic neurodegenerative disorder characterized by motor, cognitive and psychiatric disturbances, and yet there is no disease-specific patient-reported health-related quality of life outcome measure for patients. Our aim was to develop and validate such an instrument, i.e., the Huntington's Disease health-related Quality of Life questionnaire (HDQoL), to capture the true impact of living with this disease. Semi-structured interviews were conducted with the full spectrum of people living with Huntington's, to form a pool of items, which were then examined in a larger sample prior to data-driven item reduction. We provide the statistical basis for the extraction of three different sets of scales from the ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5504070 Thu, 08 Dec 2011 05:00:00 +0100 5504070 http://www.medworm.com/index.php?rid=5504071&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%3D22150955%26dopt%3DAbstract Authors: Julie D, Christine G Abstract Genomic imprinting is a particularly attractive example of epigenetic regulation leading to the parental-origin-specific expression of genes. In several ways, the 11p15 imprinted region is an exemplary model for regulation of genomic imprinting. The two imprinted domains are controlled by ICRs which carry opposite germ line imprints and they are regulated by two major mechanisms of imprinting control. Dysregulation of 11p15 genomic imprinting results in two fetal growth disorders [Silver-Russell (SRS) and Beckwith-Wiedemann (BWS) syndromes], with opposite growth phenotypes. BWS and SRS result from abnormal imprinting involving either, both domains or only one of them, with ICR1 and ICR2 more often involved in SRS and BWS respectively. DNA meth... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5504071 Wed, 07 Dec 2011 05:00:00 +0100 5504071 http://www.medworm.com/index.php?rid=5504079&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%3D22129046%26dopt%3DAbstract Authors: Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A Abstract Rett syndrome is a severe neurodevelopmental disorder characterized by microcephaly, psychomotor regression, seizures and stereotypical hand movements. Recently, deletions and inactivating mutations in FOXG1, encoding a brain-specific transcription factor that is critical for forebrain development, have been found to be associated with the congenital variant of Rett syndrome. Here, we report the clinical features and molecular characteristics of 2 cases of the congenital variant of Rett syndrome. We conducted mutation screenings of FOXG1 in a cohort of 15 Japanese patients with a clinical diagnosis of atypical Rett syndrome but without MECP2 and CDKL5 mutations. Two unrelated f... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5504079 Thu, 01 Dec 2011 05:00:00 +0100 5504079 http://www.medworm.com/index.php?rid=5504078&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%3D22129088%26dopt%3DAbstract Authors: Connolly C Abstract Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C0ORF72 Causes Chromosome 9p-Linked FTD and ALS DeJesus-Hernandez et al 2011 Neuron 72, 1-12, Oct 20 2011 A Hexanucleotide Repeat Expansion in C9ORF72 is the Cause of Chromosome 9p21-Linked ALS-FTD. Renton et al 2011. Neuron 72, 1-12, Oct 20 2011. PMID: 22129088 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5504078 Thu, 01 Dec 2011 05:00:00 +0100 5504078 http://www.medworm.com/index.php?rid=5504077&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%3D22129135%26dopt%3DAbstract Authors: Goh Y, Grants J Abstract Hashimoto S. et al. MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression.Science333, 1161 (2011). PMID: 22129135 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5504077 Thu, 01 Dec 2011 05:00:00 +0100 5504077 http://www.medworm.com/index.php?rid=5372868&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%3D22040217%26dopt%3DAbstract Authors: Guida V, Chiappe F, Ferese R, Usala G, Maestrale G, Iannascoli C, Bellacchio E, Mingarelli R, Digilio MC, Marino B, Uda M, De Luca A, Dallapiccola B PMID: 22040217 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372868 Fri, 04 Nov 2011 14:17:09 +0100 5372868 http://www.medworm.com/index.php?rid=5372861&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%3D22040218%26dopt%3DAbstract Authors: Centra M, Picchiassi E, Bini V, Tarquini F, Pennacchi L, Koutras I, Di Renzo GC, Coata G PMID: 22040218 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372861 Fri, 04 Nov 2011 14:16:42 +0100 5372861 http://www.medworm.com/index.php?rid=5372860&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%3D22040219%26dopt%3DAbstract Authors: Reiss J, Lenz U, Aquaviva-Bourdain C, Joriot-Chekaf S, Mention-Mulliez K, Holder-Espinasse M PMID: 22040219 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372860 Fri, 04 Nov 2011 14:16:18 +0100 5372860 http://www.medworm.com/index.php?rid=5372859&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%3D22040220%26dopt%3DAbstract Authors: Takano K, Tan WH, Irons MB, Jones JR, Schwartz CE PMID: 22040220 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372859 Fri, 04 Nov 2011 14:15:49 +0100 5372859 http://www.medworm.com/index.php?rid=5372873&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%3D22035297%26dopt%3DAbstract Conclusions: Advertising actions directed at increasing recruitment efficiency are a powerful and possibly neglected tool in screening for rare genetic disorders with a clinically defined phenotype. PMID: 22035297 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372873 Fri, 28 Oct 2011 04:00:00 +0100 5372873 http://www.medworm.com/index.php?rid=5372872&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%3D22035343%26dopt%3DAbstract Authors: Sebro R, Levy H, Schneck K, Dimmock D, Raby BA, Cannon CL, Broeckel U, Risch NJ Abstract Cystic fibrosis (CF) is a monogenetic disease with a complex phenotype. Over 1500 mutations in the CFTR gene have been identified, however, the p.F508del mutation is most common. There has been limited correlation between the CFTR mutation genotype and the disease phenotypes. We evaluated the non-p.F508del mutation of 108 p.F508del compound heterozygotes using the biological classification method, Grantham and Sorting Intolerant from Tolerant (SIFT) scores to assess whether these scoring systems correlated with sweat chloride levels, pancreatic sufficiency, predicted FEV(1) , and risk of infection with Pseudomonas aeruginosa in the last year. Mutations predicted to be "mild" by the bio... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372872 Fri, 28 Oct 2011 04:00:00 +0100 5372872 http://www.medworm.com/index.php?rid=5372871&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%3D22035404%26dopt%3DAbstract Conclusions Our results suggest that PanNETs are the most common pancreatic lesion in patients with TSC. Focal pancreatic mass lesions, solid or cystic, in patients with TSC should be considered possible PanNETs, and resection of the lesion may be clinically indicated. PMID: 22035404 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372871 Fri, 28 Oct 2011 04:00:00 +0100 5372871 http://www.medworm.com/index.php?rid=5372870&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%3D22035446%26dopt%3DAbstract In this study, we reported the clinical, biochemical and genotyping features of five unrelated GSD III patients come from the same region in Tunisia. The concentration of erythrocyte glycogen and AGL activity were measured by colorimetric and fluorimetric methods respectively. Four CA/TG microsatellite markers flanking the AGL gene in chromosome 1 were amplified with fluoresceinated primers. The full coding exons and their relevant exon-intron boundaries of the AGL gene were directly sequenced for the patients and their parents. All patients showed a striking increase of erythrocytes glycogen content. No AGL activity was detected in peripheral leucocytes. Sequencing of the AGL gene identified a c.3216_3217delGA (p.Glu1072AspfsX36) mutation in the five patients which is predicted to a prema... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372870 Fri, 28 Oct 2011 04:00:00 +0100 5372870 http://www.medworm.com/index.php?rid=5372869&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%3D22035467%26dopt%3DAbstract "Origins of the Elephant Man: Mosaic Somatic Mutations cause Proteus Syndrome" Clin Genet. 2011 Oct 28; Authors: De Souza RA Abstract A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome Lindhurt, Marjorie J. et all The New England Journal of Medicine 2011; 365:611-9. PMID: 22035467 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372869 Fri, 28 Oct 2011 04:00:00 +0100 5372869 http://www.medworm.com/index.php?rid=5372874&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%3D22014292%26dopt%3DAbstract We examined the economic value of offering genetic testing to children with possible neurofibromatosis 1 (NF1) in British Columbia. Diagnosis of NF1 is usually made based on diagnostic clinical criteria, but molecular diagnostic testing, currently offered on a case-by-case basis in B.C., now reliably diagnoses NF1 in 95% of cases. Children who present with some clinical features but whose findings are insufficient to meet the diagnostic criteria are labeled as having "possible NF1." Current guidelines call for these children to be followed as they have NF1, leading to annual ophthalmologic exams and screening for complications; thus, there are increased costs to the health care system. We created a model to account for these costs to the health care system, comparing the current protocol w... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372874 Thu, 20 Oct 2011 04:00:00 +0100 5372874 http://www.medworm.com/index.php?rid=5372875&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%3D22011075%26dopt%3DAbstract Conclusions: Although colonoscopic screening was associated with decreased CRC risk and better survival, CRCs continued to occur. CRC development may be further reduced by decreasing the screening interval to one year and improving quality of colonoscopy. PMID: 22011075 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372875 Wed, 19 Oct 2011 04:00:00 +0100 5372875 http://www.medworm.com/index.php?rid=5372876&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%3D21999657%26dopt%3DAbstract Authors: Caulfield T PMID: 21999657 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5372876 Fri, 14 Oct 2011 04:00:00 +0100 5372876 http://www.medworm.com/index.php?rid=5323273&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%3D21995303%26dopt%3DAbstract Authors: Camus D, Shinar Y, Aamar S, Langevitz P, Ben-Zvi I, Livneh A, Lidar M Abstract Camus D, Shinar Y, Aamar S, Langevitz P, Ben-Zvi I, Livneh A, Lidar M. 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. The presence of two mutations in the familial Mediterranean fever gene, without overt familial Mediterranean fever (FMF), designated as phenotype III, predisposes to developing 'silent' AA amyloidosis, recognized as phenotype II, due to the absence of medical supervision and colchicine prophylaxis. We sought to determine the prevalence of phenotype III in large families with only one subject affected with FMF, in order to assess the population at risk for transformation to phenotype II. A total of seve... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5323273 Fri, 14 Oct 2011 04:00:00 +0100 5323273 http://www.medworm.com/index.php?rid=5323275&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%3D21992449%26dopt%3DAbstract Authors: Gray SW, Hornik RC, Schwartz JS, Armstrong K Abstract Despite an increase in direct-to-consumer (DTC) genetic testing, little is known about how variations in website content might alter consumer behavior. We evaluated the impact of risk information provision on women's attitudes about DTC BRCA testing. We conducted a randomized experiment; women viewed a "mock"BRCA testing website without (control group: CG) or with information on the potential risks of DTC testing (RG; framed two ways: unattributed information [UR] and information presented by experts [ER]). 767 women participated; mean age was 37 years, mean education was 15 years, and 79% of subjects were white. Women in the RG had less positive beliefs about DTC testing (mean RG=23.8, CG=25.2; p=0.001), lower intentio... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5323275 Wed, 12 Oct 2011 04:00:00 +0100 5323275 http://www.medworm.com/index.php?rid=5323274&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%3D21992468%26dopt%3DAbstract In this study, we describe a truly quantitative approach using a new model, the blood platelet, which can be recovered easily with very high purity (99.9%). FMRP levels in platelets were first measured in a control population (n=124) and reference values were established. FMRP measurements were also performed in confirmed fragile X subjects. ROC curve analysis has shown that our test can easily discriminate fragile X males and females from controls (AUC=0.948). Cognitive functions were also assessed in these individuals using age-specific Wechsler intelligence scales and the Vineland adaptive behavior scales. A proportional relationship between FMRP levels, IQ and adaptive behavior was observed among fragile X individuals, suggesting that our test would be able to detect fragile X cases an... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5323274 Wed, 12 Oct 2011 04:00:00 +0100 5323274 http://www.medworm.com/index.php?rid=5323277&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%3D21981075%26dopt%3DAbstract Authors: Ketelaar ME, Hofstra RM, Hayden MR Abstract As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins has been used in genetic research to understand the contribution of genetic versus environmental factors in disease development. However, recent studies show that MZ twins can differ both genetically and epigenetically. Screening MZ twins for genetic and/or epigenetic differences could be a useful and novel approach to identify modifying factors influencing phenotypic expression of disease. MZ twins that are phenotypically discordant for monogenic diseases are of special interest. Such occurrences have been described for Huntington Disease, Spinocerebellar Ataxias, as well as for familial forms of Alzheimer Disea... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5323277 Fri, 07 Oct 2011 04:00:00 +0100 5323277 http://www.medworm.com/index.php?rid=5323276&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%3D21981118%26dopt%3DAbstract Authors: Hernan I, Gamundi MJ, Borràs E, Maseras M, García-Sandoval B, Blanco-Kelly F, Ayuso C, Carballo M Abstract Mutations in the gene encoding the transcription factor neural retina leucine zipper (NRL) are known to cause autosomal dominant (adRP) or recessive (adRP) retinitis pigmentosa. In an adRP Spanish family we detected a novel sequence variation (c.287T>C) in the NRL gene that results in the p.M96T protein change. A functional test of the ability of NRL, in conjunction with CRX, to transactivate a human RHO promoter was used to evaluate the pathogenic mechanisms of NRL. We found up-regulation of the RHO promoter by p.M96T protein similar to that shown by other missense NRL mutations that cause adRP. Affected RP patients of the family carry the nucleotide change, tho... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5323276 Fri, 07 Oct 2011 04:00:00 +0100 5323276 http://www.medworm.com/index.php?rid=5272284&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%3D21954974%26dopt%3DAbstract Authors: Dommering CJ, Garvelink MM, Moll AC, van Dijk J, Imhof SM, Meijers-Heijboer H, Henneman L Abstract To investigate reproductive behavior of individuals at increased risk of having a child with retinoblastoma (Rb), we conducted a cross-sectional questionnaire survey among 118 counselees visiting the clinical genetics department of the National Rb Center in the Netherlands. The recurrence risk for counselees ranged from < 1% to 50%. The response rate was 69%. Of 43 respondents considering having children after becoming aware of their increased risk, Rb influenced reproductive behavior for 25 (58%), of whom 14 had a recurrence risk < 3%. Twenty of these 25 decided against having more children and 5 used prenatal diagnosis. Eighteen of the 43 respondents did not use any o... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5272284 Wed, 28 Sep 2011 04:00:00 +0100 5272284 http://www.medworm.com/index.php?rid=5272283&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%3D21954990%26dopt%3DAbstract Authors: Behnecke A, Hinderhofer K, Jauch A, Janssen JW, Moog U Abstract Silver-Russell syndrome (SRS) is a genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, typical facial features and a spectrum of additional features including body and limb asymmetry and clinodactyly. Maternal uniparental disomy for chromosome 7 (upd(7)mat) was shown to occur in 5-10 % of SRS patients. Maternal UPD7 is clinically often associated with mild SRS. Parents of an affected child are given a negligible recurrence risk as all reported cases with upd(7)mat have been sporadic so far. In general, chromosomal rearrangements like translocations increase the likelihood of UPD for the chromosomes involved. However, SRS as the result of a upd(7)mat in association... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5272283 Wed, 28 Sep 2011 04:00:00 +0100 5272283 http://www.medworm.com/index.php?rid=5272282&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%3D21955034%26dopt%3DAbstract Authors: Huijgen R, Stork AD, Defesche JC, Peter J, Alonso R, Cuevas A, Kastelein JJ, Duran M, Stroes ES Abstract Two unrelated individuals were referred to Lipid Clinics in the Netherlands and Chile with extreme xanthomatosis and hypercholesterolemia. Both were diagnosed with heterozygous Familial Hypercholesterolemia (heFH) after molecular genetic analysis of the low-density lipoprotein receptor gene. Since heFH by itself could not account for the massive xanthomas, the presence of an additional hereditary lipid or lipoprotein disorder was suspected. Further genetic analysis revealed homozygozity for mutations in the sterol 27-hydroxylase gene, confirming the diagnosis of cerebrotendinous xanthomatosis (CTX). Markedly, the typical neurological manifestations of CTX were absent, s... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5272282 Wed, 28 Sep 2011 04:00:00 +0100 5272282 http://www.medworm.com/index.php?rid=5272281&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%3D21955071%26dopt%3DAbstract Authors: Valli M, Barnes AM, Gallanti A, Cabral WA, Viglio S, Weis M, Makareeva E, Eyre D, Leikin S, Antoniazzi F, Marini JC, Mottes M Abstract Deficiency of any component of the ER-resident collagen prolyl 3-hydroxylation complex causes recessive Osteogenesis Imperfecta (OI). The complex modifies the α1(I)Pro986 residue, and contains cartilage-associated protein (CRTAP), prolyl 3-hydroxylase 1 (P3H1) and cyclophilin B (CyPB). Fibroblasts normally secrete about 10% of CRTAP. Most CRTAP mutations cause a null allele and lethal type VII OI. We identified a 7 year-old Egyptian boy with non-lethal type VII OI and investigated the effects of his null CRTAP mutation on collagen biochemistry, the prolyl 3-hydroxylation complex, and collagen in extracellular matrix. The proband is homozyg... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5272281 Wed, 28 Sep 2011 04:00:00 +0100 5272281 http://www.medworm.com/index.php?rid=5272285&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%3D21943145%26dopt%3DAbstract Authors: Nelson TN, Armstrong L, Richer J, Evans J, Lauzon J, McGillivray B, Bruyere H, Dougan S PMID: 21943145 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5272285 Wed, 21 Sep 2011 04:00:00 +0100 5272285 http://www.medworm.com/index.php?rid=5256028&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%3D21933173%26dopt%3DAbstract Authors: Guilmatre A, Sharp AJ Abstract A major weakness of most genome-wide association studies has been their inability to fully explain the heritable component of complex disease. Nearly all such studies consider the two parental alleles to be functionally equivalent. However, the existence of imprinted genes demonstrates that this assumption can be wrong. In this review, we describe a wide variety of different mechanisms that underlie many other parent of origin and trans-generational effects that are known to operate in both humans and model organisms, suggesting that these phenomena are perhaps not uncommon in the genome. We propose that the consideration of alternative models of inheritance will improve our understanding of the heritability and causes of human traits and cou... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5256028 Tue, 20 Sep 2011 04:00:00 +0100 5256028 http://www.medworm.com/index.php?rid=5224396&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%3D21919901%26dopt%3DAbstract We described a boy with chromosomal translocation: 46, XY t (8; 18) (q22; q21) that may disrupts the ZFPM2/FOG2 locus. The coding sequences of ZFPM2/FOG2 were determined in 38 patients with sporadic DORV, 95 patients with Tetralogy of Fallot (TOF), and 12 patients with transposition of the great arteries (TGA). Five DNA sequence variants affecting variably conserved residues of ZFPM2/FOG2 were identified in patients with TOF- or VSD-type of DORV. Three novel mutations (p.V339I, p.K737E, p.A611T) were reported for the first time. The other two mutations (p.M703L, p.Q889E) were reported in patients with congenital diaphragmatic hernia but not in CHD patients. Our finding suggests that variants of the ZFPM2/FOG2 gene might be a common cause of DORV. PMID: 21919901 [PubMed - as supplied by... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5224396 Thu, 15 Sep 2011 04:00:00 +0100 5224396 http://www.medworm.com/index.php?rid=5224395&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%3D21919902%26dopt%3DAbstract Authors: Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T Abstract In families with clustering of breast and ovarian cancer molecular testing of the major susceptibility genes BRCA1/2 helps to identify patients with disease mutations and healthy persons at high risk who can participate in targeted intervention programs. We investigated 5559 families from the German Consortium for Hereditary Breast and Ovarian Cancer included between 1997 and 2008 and treated under clinical routine conditions. In each family an index patient/person had been screened for deleterious mutations in BRCA1/2. Healthy relatives agreed to predictive testing in 888 of 15... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5224395 Thu, 15 Sep 2011 04:00:00 +0100 5224395 http://www.medworm.com/index.php?rid=5224397&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%3D21913903%26dopt%3DAbstract Authors: Fanin M, Anichini A, Cassandrini D, Fiorillo C, Scapolan S, Minetti C, Cassanello M, Donati MA, Siciliano G, D'Amico A, Lilliu F, Bruno C, Angelini C Abstract Since genotype-phenotype correlations require the study of large patients populations, we investigated 49 italian patients (33 unreported) with the muscle form of carnitine-palmytoil-transferase-II (CPT-II) deficiency and CPT2 gene mutations. CPT enzyme activity below 25% of controls would lead to the development of muscle symptoms, and CPT activity below 15% would cause a relatively-severe phenotype of the muscle form. Of the 15 different mutations found, 6 are novel (40%). A functional significance of mutations could be derived only for the 2 homozygous missense mutations found: both the p.S113L and the p.R631C (re... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5224397 Tue, 13 Sep 2011 04:00:00 +0100 5224397 http://www.medworm.com/index.php?rid=5213311&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%3D21906047%26dopt%3DAbstract In this study, we describe a Lebanese family with three ICF2 affected brothers. Sanger sequencing of the coding sequence of ZBTB24 gene was conducted and revealed a novel deletion: c.396_397delTA (p.His132Glnfs*19), resulting in a loss-of-function of the corresponding protein. ZBTB24 belongs to a large family of transcriptional factors and may be involved in DNA methylation of juxtacentromeric DNA. Detailed molecular and functional studies of the ZBTB24 and DNMT3B genes are needed to understand the pathophysiology of ICF syndrome. PMID: 21906047 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5213311 Fri, 09 Sep 2011 04:00:00 +0100 5213311 http://www.medworm.com/index.php?rid=5213315&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%3D21895638%26dopt%3DAbstract This study indicates that 53% of HD offspring and 45% of BRCA1/2 offspring is exposed to adversity in childhood or adolescence. The relevance of these findings for counseling in predictive testing programs, reproductive decision making, and child rearing matters is discussed. PMID: 21895638 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5213315 Tue, 06 Sep 2011 04:00:00 +0100 5213315 http://www.medworm.com/index.php?rid=5213313&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%3D21895640%26dopt%3DAbstract Authors: Skotte NH Abstract A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Fedeles et al., Nature Genetics 2011 June 19; 43(7):639-47. PMID: 21895640 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5213313 Tue, 06 Sep 2011 04:00:00 +0100 5213313 http://www.medworm.com/index.php?rid=5213312&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%3D21895641%26dopt%3DAbstract In conclusion, some apparent missense mutations have an affect upon splicing which can be identified by direct RNA analysis, however in silico analysis of splice sites is not always accurate, should be carried out with more than one prediction program and results should be used with caution. PMID: 21895641 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5213312 Tue, 06 Sep 2011 04:00:00 +0100 5213312 http://www.medworm.com/index.php?rid=5213425&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%3D21895633%26dopt%3DAbstract Authors: Abadie C, Blanchet C, Baux D, Larrieu L, Besnard T, Ravel P, Biboulet R, Hamel C, Malcolm S, Mondain M, Claustres M, Roux AF Abstract Bilateral sensorineural hearing loss (HL), classically described as mild to severe with a typically down-sloping audiometric configuration, is the earliest symptom occurring in Usher syndrome type II (USH2). Audiological findings were analysed in a total of 100 USH2 patients (92 families) divided into three groups according to the gene involved: 88 USH2A, 10 GPR98 and 2 DFNB31 patients. A fine analysis of audiograms was performed (pure tone average, degree of severity, configuration). The median age of HL diagnosis was 5 years (range 8 months - 31 years) although the median age at USH2 diagnosis was 34.5 (range 8-76). Moderate HL was predomi... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5213425 Mon, 05 Sep 2011 04:00:00 +0100 5213425 http://www.medworm.com/index.php?rid=5213424&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%3D21895634%26dopt%3DAbstract Authors: Doherty J, O'Donovan M, Owen M Abstract Recent studies have supported the hypothesis based upon expectations from population genetics that the high heritability of schizophrenia reflects a combination of relatively common alleles of small effect and rare alleles some with relatively large effects. Genome-wide association studies have identified a number of risk loci at genome-wide levels of significance as well as evidence for a substantial burden of common risk loci. Moreover these recent findings suggest genetic overlap with bipolar disorder which has traditionally been assumed to be genetically distinct from schizophrenia. Genome-wide studies of at least one class of relatively uncommon variant, submicroscopic chromosomal abnormalities often referred to as copy number v... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5213424 Mon, 05 Sep 2011 04:00:00 +0100 5213424 http://www.medworm.com/index.php?rid=5213373&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%3D21895635%26dopt%3DAbstract Authors: Gutiérrez Espeleta GA, Llacuachaqui M, García-Jiménez L, Herrera MA, Vega KL, Ortiz A, Royer R, Li S, Narod SA Abstract The contribution of mutations in BRCA1 and BRCA2 genes to the burden of breast cancer in Costa Rica has not been studied. We estimated the frequency of BRCA mutations among 111 Costa Rican women with breast cancer and a family history of breast cancer. These women were mainly from the Metropolitan Area of San José. A detailed family history was obtained from each patient and a blood sample was processed for DNA extraction. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques and all mutations were confirmed by direct sequencing. Four different mutations were identified in five patients (four in BRCA2 and one in BRCA1) representin... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5213373 Mon, 05 Sep 2011 04:00:00 +0100 5213373 http://www.medworm.com/index.php?rid=5213358&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%3D21895636%26dopt%3DAbstract Authors: Calabrese G, Baldi M, Fantasia D, Sessa MT, Kalantar M, Holzhauer C, Alunni-Fabbroni M, Palka G, Sitar G Abstract Detection of chromosomal aneuploidies using fetal cells isolated from maternal blood, for prenatal non-invasive genetic investigation, has been a long-sought goal of clinical genetics to replace amniocentesis and chorionic villous sampling to avoid any risk to the fetus. The purpose of this study was to develop a sensitive and specific new assay for diagnosing aneuploidy with circulating fetal cells isolated from maternal blood as previously reported using two novel approaches: a) simultaneous immuno-cytochemistry (ICC) evaluation using a monoclonal antibody for i-antigen, followed by fluorescence in situ hybridization (FISH); b) dual-probe FISH analysis of int... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5213358 Mon, 05 Sep 2011 04:00:00 +0100 5213358 http://www.medworm.com/index.php?rid=5213335&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%3D21895637%26dopt%3DAbstract Authors: Gásdal Karstensen H, Tommerup N Abstract Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group ( 0.05%) have no memory of ever being able to smell and are classified as having isolated congenital anosmia (ICA). Families are rare, and tend to present in a dominant inheritance pattern. Despite a strong degree of heritability, no human disease causing mutations have been identified. Anosmia is part of the clinical spectrum in various diseases, as seen in Kallmann syndrome, various ciliopathies and congenital insensitivity to pain. This review will focus on ICA through already published families and cases as well as syndromes where anosmia is part of the clinical disease spectrum. Furthermore, olfactory signal t... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5213335 Mon, 05 Sep 2011 04:00:00 +0100 5213335 http://www.medworm.com/index.php?rid=5213314&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%3D21895639%26dopt%3DAbstract Authors: Ladha S Abstract References: 1. Guernsey DL, Matsuoka M, Jiang H et al. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet 2011: 43, 360-364. 2. Bicknell LS, Walker S, Klingseisen A et al. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet 2011: 43, 350-355. 3. Gorlin, RJ, Cervenka, J, Moller, K, Horrobin, M and Witkop, CJ Jr. Malformation syndromes. A selected miscellany. Birth Defects Orig. Artic. Ser 1975: 11, 39-50. PMID: 21895639 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5213314 Mon, 05 Sep 2011 04:00:00 +0100 5213314 http://www.medworm.com/index.php?rid=5170179&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%3D21863602%26dopt%3DAbstract Authors: PMID: 21863602 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5170179 Mon, 29 Aug 2011 08:20:08 +0100 5170179 http://www.medworm.com/index.php?rid=5132885&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%3D21815884%26dopt%3DAbstract Authors: Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N PMID: 21815884 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5132885 Tue, 16 Aug 2011 23:02:16 +0100 5132885 http://www.medworm.com/index.php?rid=5132884&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%3D21815885%26dopt%3DAbstract Authors: Tort F, Del Toro M, Lissens W, Montoya J, Fernàndez-Burriel M, Font A, Buján N, Navarro-Sastre A, López-Gallardo E, Arranz J, Riudor E, Briones P, Ribes A PMID: 21815885 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5132884 Tue, 16 Aug 2011 23:02:03 +0100 5132884 http://www.medworm.com/index.php?rid=5132883&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%3D21815886%26dopt%3DAbstract Authors: Rouleau E, Zattara H, Lefol C, Noguchi T, Briaux A, Buecher B, Bourdon V, Sobol H, Lidereau R, Olschwang S PMID: 21815886 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5132883 Tue, 16 Aug 2011 23:01:50 +0100 5132883 http://www.medworm.com/index.php?rid=5132877&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%3D21834858%26dopt%3DAbstract Authors: Dahdaleh FS, Carr JC, Calva D, Howe JR Juvenile Polyposis (JP) is an autosomal dominant hamartomatous polyposis syndrome that carries a significant risk for the development of colorectal cancer. Microdeletions of one of the two predisposing genes to JP, BMPR1A, have been associated with a severe form of JP called juvenile polyposis of infancy. Many of these deletions have also been found to contiguously include PTEN, which is the gene responsible for the development of Cowden syndrome. The advent of molecular techniques that localize genomic copy number variations and others that target specific genes such as multiplex-ligation probe analysis has allowed researchers to explore this area further for deletions. Here, we review the literature for microdeletions described on chrom... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5132877 Wed, 10 Aug 2011 23:00:00 +0100 5132877 http://www.medworm.com/index.php?rid=5132881&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%3D21819392%26dopt%3DAbstract Authors: Recessive LAMC3 mutations cause malformations of occipital cortical development. Barak T et al, Nature Genetics, 2011 Jun;43(6):590-4. Epub 2011 May 15. PMID: 21819392 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5132881 Thu, 04 Aug 2011 23:00:00 +0100 5132881 http://www.medworm.com/index.php?rid=5132880&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%3D21819393%26dopt%3DAbstract Authors: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. O'Roak BJ et al, Nature Genetics, 2011 Jun;43(6):585-9. Epub 2011 May 15. PMID: 21819393 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5132880 Thu, 04 Aug 2011 23:00:00 +0100 5132880 http://www.medworm.com/index.php?rid=5132879&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%3D21819394%26dopt%3DAbstract Authors: Arsov et al. (2011) Am J Hum Genet. 2011 May 13;88(5):566-73. PMID: 21819394 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5132879 Thu, 04 Aug 2011 23:00:00 +0100 5132879 http://www.medworm.com/index.php?rid=5132878&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%3D21819395%26dopt%3DAbstract GENETIC BASIS FOR TOOTH MALFORMATIONS: FROM MICE TO MEN AND BACK AGAIN. Clin Genet. 2011 Aug 5; Authors: Mitsiadis TA, Luder HU Teeth arise from sequential and reciprocal interactions between the oral epithelium and the cranial neural crest-derived mesenchyme. Their formation involves a precisely orchestrated series of molecular and morphogenetic events. Numerous regulatory genes that have been primarily found in organisms such as Drosophila, zebrafish, xenopus and mouse are associated with all stages of tooth formation (patterning, morphogenesis, cytodifferentiation and mineralization). Most of these genes belong to evolutionary conserved signaling pathways that regulate communication between epithelium and mesenchyme during embryonic development. These signaling molecules tog... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5132878 Thu, 04 Aug 2011 23:00:00 +0100 5132878 http://www.medworm.com/index.php?rid=5132882&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%3D21815888%26dopt%3DAbstract We describe here the clinical and molecular data for 17 cases of MOPD I, including 15 previously unreported cases, all carrying biallelic mutations in the RNU4ATAC gene. PMID: 21815888 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5132882 Wed, 03 Aug 2011 23:00:00 +0100 5132882 http://www.medworm.com/index.php?rid=5037255&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%3D21749364%26dopt%3DAbstract Authors: Ostrer H PMID: 21749364 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5037255 Tue, 19 Jul 2011 00:30:29 +0100 5037255 http://www.medworm.com/index.php?rid=5037254&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%3D21749365%26dopt%3DAbstract Authors: Al-Shammari M, Al-Husain M, Al-Kharfy T, Alkuraya F PMID: 21749365 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5037254 Tue, 19 Jul 2011 00:30:24 +0100 5037254 http://www.medworm.com/index.php?rid=5037253&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%3D21749366%26dopt%3DAbstract Authors: Ceballos-Picot I, Guest G, Moriniere V, Mockel L, Daudon M, Malan V, Antignac C, Heidet L PMID: 21749366 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5037253 Tue, 19 Jul 2011 00:30:20 +0100 5037253 http://www.medworm.com/index.php?rid=5037252&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%3D21752016%26dopt%3DAbstract Authors: Guegan K, Stals K, Day M, Turnpenny P, Ellard S Alagille syndrome is a multi-system disorder characterized by highly variable expressivity, most frequently caused by heterozygous JAG1 gene mutations. Classic diagnostic criteria combine the presence of bile duct paucity on liver biopsy with three of five systems affected; liver, heart, skeleton, eye and dysmorphic facies. The aim of this study was to determine the prevalence and distribution of JAG1 mutations in patients referred for routine clinical diagnostic testing. Clinical data was available for 241 patients from 135 families. The index cases were grouped according to the number of systems affected (heart, liver, skeletal, eye and facies) and the mutation frequency calculated for each group. JAG1 mutations were identified... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5037252 Tue, 12 Jul 2011 23:00:00 +0100 5037252 http://www.medworm.com/index.php?rid=5037256&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%3D21745197%26dopt%3DAbstract Authors: Gallus GN, Cardaioli E, Rufa A, Collura M, Da Pozzo P, Pretegiani E, Tumino M, Pavone L, Federico A Optic atrophy type 1 (OPA1) gene mutation causes autosomal dominant optic atrophy (ADOA, MIM #165500). Prevalence of ADOA ranges from 1:50000 in most populations to 1:12000 in Denmark. 70 members of nine families were analysed for the presence of OPA1 gene mutations by polymerase chain reaction (PCR) and direct sequencing. We identified three OPA1 gene mutations in 48 patients with variable signs of optic atrophy. Two mutations, c.784-21_784-22insAluYb8 and c.876_878delTGT, were found in two different families. The third mutation, c.869G>A, was found in 28 patients from seven families. The haplotype analysis data suggested that the c.869G>A mutation is a founder mutation. ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5037256 Sun, 10 Jul 2011 23:00:00 +0100 5037256 http://www.medworm.com/index.php?rid=5037257&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%3D21736564%26dopt%3DAbstract Conclusions These findings provide insight into patients' important and unique perspective and have implications for the management and development of interventions across the spectrum of HD stages. PMID: 21736564 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5037257 Thu, 07 Jul 2011 23:00:00 +0100 5037257 http://www.medworm.com/index.php?rid=5037258&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%3D21722100%26dopt%3DAbstract Authors: Mosca A, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, Bonnet C, Vincent-Delorme C, Berri M, Plessis G, Manouvrier-Hanu S, Dieux-Coeslier A, Thauvin-Robinet C, Pipiras E, Delahaye A, Payet M, Ragon C, Masurel-Paulet A, Questiaux E, Benzacken B, Jonveaux P, Mugneret F, Holder-Espinasse M Most microdeletion syndromes identified before the implementation of array-CGH were presumed to be well-defined clinical entities. However, the introduction of whole-genome screening led not only to the description of new syndromes, but also to the recognition of a broader spectrum of features for well-known syndromes. Here, we report on 10 patients presenting with mental retardation associated with atypical features not suggestive of a known microdeletion and a normal standard karyot... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=5037258 Thu, 30 Jun 2011 23:00:00 +0100 5037258 http://www.medworm.com/index.php?rid=4943487&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%3D21649642%26dopt%3DAbstract Authors: Laycock-van Spyk S, Jim H, Thomas L, Spurlock G, Fares L, Palmer-Smith S, Kini U, Saggar A, Patton M, Mautner V, Pilz D, Upadhyaya M PMID: 21649642 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943487 Sun, 19 Jun 2011 06:01:19 +0100 4943487 http://www.medworm.com/index.php?rid=4943486&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%3D21649643%26dopt%3DAbstract Authors: Zhang L, Fleischut M, Kohut K, Spencer S, Wong K, Stadler Z, Kauff N, Offit K, Robson M PMID: 21649643 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943486 Sun, 19 Jun 2011 06:01:05 +0100 4943486 http://www.medworm.com/index.php?rid=4943477&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%3D21668896%26dopt%3DAbstract In conclusion, our data shall improve the overall understanding of fibrochondrogenesis especially in surviving homozygous patients and, at least partly, explain the phenotypic variability associated with COL11A1 gene mutations. PMID: 21668896 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943477 Sun, 12 Jun 2011 23:00:00 +0100 4943477 http://www.medworm.com/index.php?rid=4943478&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%3D21668437%26dopt%3DAbstract Authors: Kim J, Song J, Lyu CJ, Kim YR, Oh SH, Choi YC, Yoo JH, Choi JR, Kim H, Lee KA The aim of this study was to investigate a mutation spectrum of F11 among Korean patients with FXI deficiency and to determine the haplotypes of mutations frequently found in Koreans. Thirteen unrelated patients from non-consanguineous families with FXI deficiency were included in the study. In the mutation analysis, the most frequently found mutations were Q263X (4 cases; 31%) and Q226X (3 cases; 23%). The frequency of Q263X bearing haplotype was significantly different between normal and patient groups (P=0.001), which is consistent with a founder effect of Q263X mutation. Testing for the presence of these two mutations should be the first genetic screening in Korean patients with FXI deficiency. ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943478 Thu, 09 Jun 2011 23:00:00 +0100 4943478 http://www.medworm.com/index.php?rid=4943485&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%3D21651510%26dopt%3DAbstract Authors: Bras J, Singleton A Bras JM, Singleton AB. Exome sequencing in Parkinson's disease. Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive. In this review, we discuss not only how we envisage exome sequencing being applied to a complex disease, such as Parkinson's disease, but also what are the known caveats of this approach. PMID: 21651510 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943485 Tue, 07 Jun 2011 23:00:00 +0100 4943485 http://www.medworm.com/index.php?rid=4943484&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%3D21651511%26dopt%3DAbstract Authors: Willemsen R, Levenga J, Oostra BA The FMR1 gene contains a CGG-repeat present in the 5'UTR which can be unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal population. In patients with fragile X syndrome, a repeat length exceeding 200 CGGs (full mutation: FM) generally leads to methylation of the repeat and the promoter region, which is accompanied by silencing of the FMR1 gene. The absence of FMR1 protein, FMRP, seen in FM is the cause of the mental retardation in patients with fragile X syndrome. The premutation (PM) is defined as 55-200 CGGs. Female PM carriers are at risk of developing primary ovarian insufficiency. Elderly PM carriers might develop a progressive neurodegenerative disorder called fragile X-associated tremor/ata... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943484 Tue, 07 Jun 2011 23:00:00 +0100 4943484 http://www.medworm.com/index.php?rid=4943483&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%3D21651512%26dopt%3DAbstract Authors: Agola JO, Jim PA, Ward HH, Basuray S, Wandinger-Ness A Rab GTPases are well-recognized targets in human disease, though are underexplored therapeutically. Elucidation of how mutant or dysregulated Rab GTPases and accessory proteins contribute to organ specific and systemic disease remains an area of intensive study and an essential foundation for effective drug targeting. Mutation of Rab GTPases or associated regulatory proteins causes numerous human genetic diseases. Cancer, neurodegeneration and diabetes represent examples of acquired human diseases resulting from the up- or downregulation or aberrant function of Rab GTPases. The broad range of physiologic processes and organ systems affected by altered Rab GTPase activity is based on pivotal roles in responding to cell sign... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943483 Tue, 07 Jun 2011 23:00:00 +0100 4943483 http://www.medworm.com/index.php?rid=4943482&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%3D21651513%26dopt%3DAbstract We report a father and two sons with a truncating PTCH mutation and the major features of NBCCS. One son had open thoracic spina bifida and the other had an occipital meningocoele. We believe this to be the first report of cranial neural tube defect in NBCCS and suggest that consideration be given to including PTCH analysis in genetic association studies in neural tube defects as the hedgehog pathway is integral to normal human neurulation. PMID: 21651513 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943482 Tue, 07 Jun 2011 23:00:00 +0100 4943482 http://www.medworm.com/index.php?rid=4943481&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%3D21651514%26dopt%3DAbstract Conclusions: This report enlarges the spectrum of clinical phenotypes associated with genetic mutations in SOD1 and TARDBP genes confirming the variability of phenotypes associated with the same mutation and emphasizes the important of genetic analysis. The different genotype-phenotype correlations suggest the implication of other factors possibly influencing clinical manifestation of the disease, such as an epigenetic or epistatic effect with other genes not yet identified. PMID: 21651514 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943481 Tue, 07 Jun 2011 23:00:00 +0100 4943481 http://www.medworm.com/index.php?rid=4943480&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%3D21651515%26dopt%3DAbstract We report a remarkable ACVRL1 germinal and somatic mosaicism characterized by the presence of two distinct mutant alleles and a non-mutant ACVRL1 allele in a woman diagnosed with PAH at age 40. She also met the Curaçao diagnostic criteria for HHT based on additional findings of telangiectases, epistaxis and arteriovenous malformations. Mutation analysis of ACVRL1 identified two adjacent heterozygous deleterious mutations within exon 10: c.1388del (p.Gly463fsX2) and c.1390del (p.Leu464X) in a region enriched for mutation-associated DNA motifs. The mother transmitted the 1388del to one child and the c.1390del to two children confirming germinal mosaicism. Allele-specific PCR analysis demonstrated that c.1388del is the predominant mutation in lymphocytes of the index case. Haplotype analysis... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943480 Tue, 07 Jun 2011 23:00:00 +0100 4943480 http://www.medworm.com/index.php?rid=4943479&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%3D21651516%26dopt%3DAbstract Authors: Almaglouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS Gamma-glutamyl cycle is a six-enzyme cycle that represents the primary pathway for glutathione synthesis and degradation. 5-oxoprolinase deficiency is an extremely rare disorder of the gamma-glutamyl cycle with only eight patients reported to date. Debate continues as to whether this is a benign biochemical defect because of the heterogeneity of the clinical presentation which ranges from normal to significant neurological involvement. Here, we report the first molecularly characterized patients with 5-oxoprolinase deficiency due to mutation in OPLAH (which encodes 5-oxoprolinase). The largely benign clinical course of the patients described herein despite persistent 5-oxoprolinuria highlights the im... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943479 Tue, 07 Jun 2011 23:00:00 +0100 4943479 http://www.medworm.com/index.php?rid=4943488&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%3D21644943%26dopt%3DAbstract Authors: Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N We encountered a family with two boys similarly showing brain atrophy with reduced white matter, hypoplasia of the brainstem and corpus callosum, spastic paralysis, and severe growth and mental retardation without speaking a word. The phenotype of these patients was not compatible with any known type of syndromic leukodystrophy. Presuming an X-linked disorder, we performed next-generation sequencing (NGS) of the transcripts of the entire X chromosome. A single lane of exome NGS in each patient was sufficient. Six potential mutations were found in both affected boys. Two missense mutations, including c.92T>C (p.V31A) in L1CAM, were potentially pathogenic, but this remained inconclusive. The other four c... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4943488 Thu, 02 Jun 2011 23:00:00 +0100 4943488 http://www.medworm.com/index.php?rid=4794080&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%3D21480869%26dopt%3DAbstract Authors: Brunham L, Tietjen I, Bochem A, Singaraja R, Franchini P, Radomski C, Mattice M, Legendre A, Hovingh G, Kastelein J, Hayden M Brunham LR, Tietjen I, Bochem AE, Singaraja RR, Franchini PL, Radomski C, Mattice M, Legendre A, Hovingh GK, Kastelein JJP, Hayden MR. Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans. The scavenger receptor class B, member 1 (SR-BI), is a key cellular receptor for high-density lipoprotein (HDL) in mice, but its relevance to human physiology has not been well established. Recently a family was reported with a mutation in the gene encoding SR-BI and high HDL cholesterol (HDL-C). Here we report two additional individuals with extremely high HDL-C (greater than the 90th percentile for age and gender) with rare mutatio... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794080 Sat, 07 May 2011 08:03:57 +0100 4794080 http://www.medworm.com/index.php?rid=4793960&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%3D21542834%26dopt%3DAbstract Authors: Tabatabaiefar M, Alasti F, Shariati L, Farrokhi E, Fransen E, Nooridaloii M, Chaleshtori M, Van Camp G PMID: 21542834 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4793960 Sat, 07 May 2011 08:00:43 +0100 4793960 http://www.medworm.com/index.php?rid=4793900&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%3D21542835%26dopt%3DAbstract Authors: Seshadri D, Jones S, Burt K, Lavery L, Wraith J PMID: 21542835 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4793900 Sat, 07 May 2011 08:00:17 +0100 4793900 http://www.medworm.com/index.php?rid=4793857&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%3D21542836%26dopt%3DAbstract Authors: Rouleau G PMID: 21542836 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4793857 Sat, 07 May 2011 07:59:49 +0100 4793857 http://www.medworm.com/index.php?rid=4793814&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%3D21542837%26dopt%3DAbstract Authors: Iraola-Guzmán S, Estivill X, Rabionet R Iraola-Guzmán S, Estivill X, Rabionet R. DNA methylation in neurodegenerative disorders: a missing link between genome and environment? The risk of developing neurodegenerative disorders such as Alzheimer's disease or Parkinson's disease is influenced by genetic and environmental factors. Environmental events occurring during development or later in life can be related to disease susceptibility. One way by which the environment may exert its effect is through epigenetic modifications, which might affect the functioning of genes. These include nucleosome positioning, post-translational histone modifications, and DNA methylation. In this review we will focus in the potential role of DNA methylation in neurodegenerative disorders and in t... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4793814 Tue, 03 May 2011 23:00:00 +0100 4793814 http://www.medworm.com/index.php?rid=4794131&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%3D21470211%26dopt%3DAbstract Authors: Schrauwen I, Weegerink N, Fransen E, Claes C, Pennings R, Cremers C, Huygen P, Kunst H, Van Camp G PMID: 21470211 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794131 Sat, 30 Apr 2011 23:00:00 +0100 4794131 http://www.medworm.com/index.php?rid=4794130&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%3D21470212%26dopt%3DAbstract Authors: Collins J, Marvelle A, Stevenson R PMID: 21470212 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794130 Sat, 30 Apr 2011 23:00:00 +0100 4794130 http://www.medworm.com/index.php?rid=4794058&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%3D21534943%26dopt%3DAbstract Authors: Sutton LM Review of article: Whole-Exome Re-sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia Glazov et al., 2011.PLoS Genetics 7(3):e1002027Epub 2011 Mar24. PMID: 21534943 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794058 Thu, 28 Apr 2011 23:00:00 +0100 4794058 http://www.medworm.com/index.php?rid=4794055&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%3D21534944%26dopt%3DAbstract This study demonstrates that compound heterozygous mutations constituted a significant portion of patients with apparently contiguous multiexon deletions. Phase determination is a prerequisite to molecular diagnosis for autosomal recessive EOPD, especially in subjects with PARK2 exon rearrangements. PMID: 21534944 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794055 Thu, 28 Apr 2011 23:00:00 +0100 4794055 http://www.medworm.com/index.php?rid=4794051&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%3D21534945%26dopt%3DAbstract Authors: Sarafoglou K, Lorentz CP, Otten N, Oetting WS, Grebe SK Newborn screening (NBS) identifies the majority of classical (salt-wasting and simple-virilizing) cases of congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase (21α-OHase) during the first days of life. Diagnosis of classical CAH is confirmed by follow-up serum 17-hydroxyprogesterone and/or the adrenocorticotropin stimulation test; however, neither test definitively distinguishes between the classical sub-types. After confirmation, all newborns are started on hydrocortisone (glucocorticoid) and fludrocortisone (mineralocorticoid) treatment. While initiating fludrocortisone treatment in classical CAH patients, independent of sub-type and before salt-wasting signs or symptoms occur prevents a life-threatening salt-... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794051 Thu, 28 Apr 2011 23:00:00 +0100 4794051 http://www.medworm.com/index.php?rid=4794046&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%3D21534946%26dopt%3DAbstract Authors: Lee K, Khan S, Islam A, Ansar M, Andrade PB, Kim S, Santos-Cortez RL, Ahmad W, Leal SM Mutations in the TMPRSS3 gene are known to cause autosomal recessive nonsyndromic hearing impairment (ARNSHI). After undergoing a genome scan, ten consanguineous Pakistani families with ARNSHI were found to have significant or suggestive evidence of linkage to the TMPRSS3 region. In order to elucidate if the TMPRSS3 gene is responsible for ARNSHI in these families, the gene was sequenced using DNA samples from these families. Six TMPRSS3 variants were found to co-segregate in ten families. None of these variants were detected in 500 control chromosomes. Four novel variants, three of which are missense [c.310G>A (p.Glu104Lys), c.767C>T (p.Ala256Val) and c.1273T>C (p.Cys425Arg)] and o... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794046 Thu, 28 Apr 2011 23:00:00 +0100 4794046 http://www.medworm.com/index.php?rid=4794070&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%3D21517826%26dopt%3DAbstract Authors: Greene VB, Kremer S, Stoetzel C, Christmann D, Schuster C, Durand M, Verloes A, Sigaudy S, Holder M, Godet J, Brandt C, Marion V, Danion A, Dietemann JL, Dollfus H The Bardet-Biedl syndrome (BBS) is a rare ciliopathy clinically defined by the association of retinitis pigmentosa, polydactyly, obesity, kidney disease and cognitive impairment. The cognitive functioning, behavioral phenotype, prevalence of psychiatric diseases and memory performances of a cohort of 34 BBS patients was evaluated and a systemic brain MRI was performed. The patients' cognitive functioning was of marked variable efficiency ranging from normal to disabling perfomances. Neuropsychological disorders such as a slow thought process, attention difficulties, obsessive-compulsive traits were observed. Our mai... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794070 Sun, 24 Apr 2011 23:00:00 +0100 4794070 http://www.medworm.com/index.php?rid=4794067&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%3D21517827%26dopt%3DAbstract Authors: Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle CM, Wu X, Valenzano KJ, Benjamin ER, Donati MA, Guerrini R, Genuardi M, Morrone A Fabry disease (FD) is an X-linked lysosomal storage disorder with a heterogeneous spectrum of clinical manifestations that are caused by deficiency of α-galactosidase A (α-Gal-A) activity. While useful for diagnosis in males, enzyme activity is not a reliable biochemical marker in heterozygous females due to random X-chromosome inactivation, thus rendering DNA sequencing of the α-Gal-A gene, GLA, the most reliable test for the confirmation of diagnosis in females. The spectrum of GLA mutations is highly heterogeneous. Many polymorphic GLA varia... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794067 Sun, 24 Apr 2011 23:00:00 +0100 4794067 http://www.medworm.com/index.php?rid=4794064&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%3D21517828%26dopt%3DAbstract This study shows that the spectrum of CBS gene mutations in Saudi homocystinuria patients is quite different than the Arab patients from Qatar and Israel. This study is the only detailed phenotypic and genetic depiction of homocystinuria patients from Saudi Arabia and Sudan. The data is useful for diagnosis and management of Saudi patients. PMID: 21517828 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794064 Sun, 24 Apr 2011 23:00:00 +0100 4794064 http://www.medworm.com/index.php?rid=4794079&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%3D21496006%26dopt%3DAbstract Conclusion: Craniofacial and intraoral findings are highly variable in Robinow syndrome, with abnormalities of the intraoral structures being more prominent in the autosomal dominant form. We propose that the difference in the alveolar ridge deformation pattern and severity of other intraoral characteristics could enhance the differential diagnosis of the two forms of this syndrome. PMID: 21496006 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794079 Thu, 14 Apr 2011 23:00:00 +0100 4794079 http://www.medworm.com/index.php?rid=4794078&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%3D21496007%26dopt%3DAbstract Authors: Chabchoub E, Willekens D, Vermeesch JR, Fryns JP Holoprosencephaly (HPE), the most common malformation of the human brain results from abnormal cleavage of the forebrain during the early embryonic developmental stages. The spectrum of malformations in HPE is wide, ranging from the classical cyclopia/proboscis to fairly asymptomatic forms (i.e. a single maxillary central incisor (SMCI)). HPE may be caused by environmental or genetic factors. ZIC2 (13q32) was the second gene identified in which mutations cause HPE and recently a specific phenotype was ascribed to ZIC2-mutation HPE. Earlier, we reported a boy presenting HPE and deafness. Cytogenetic analyses were normal. Using array-comparative genomic hybridization (aCGH) we found a de novo 129 kb del(13)(q32) encompassing ZIC2 ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794078 Thu, 14 Apr 2011 23:00:00 +0100 4794078 http://www.medworm.com/index.php?rid=4794077&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%3D21496008%26dopt%3DAbstract Authors: Fullston T, Finnis M, Hackett A, Hodgson B, Brueton L, Baynam G, Norman A, Reish O, Shoubridge C, Gecz J ARX mutations cause a diverse spectrum of human disorders, ranging from severe brain and genital malformations to non-syndromic intellectualdisability (ID). ARX is a transcription factor with multiple domains that include four polyalanine (pA) tracts, the first two of which are frequently expanded by mutations. We progressively screened DNA samples from 613 individuals with ID initially for the most frequent ARX mutations (c.304ins(GCG)(7) "expansion" of pA1 and c.429_452dup "dup24bp" of pA2). 500 samples without pA1 or pA2 mutations had the entire ARX ORF screened by SSCP and/or dHPLC. Overall, 8 families with 6 mutations in ARX were identified (1.31%): 5 duplication mutat... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794077 Thu, 14 Apr 2011 23:00:00 +0100 4794077 http://www.medworm.com/index.php?rid=4794075&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%3D21496009%26dopt%3DAbstract Authors: Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A Primary microcephaly is an autosomal recessive disorder characterized by smaller than normal brain size and mental retardation. It is genetically heterogeneous with seven loci: MCPH1-MCPH7. We have previously reported genetic analysis of 35 families, including the identification of the MCPH7 gene STIL. Of the 35 families, three families showed linkage to the MCPH2 locus. Recent whole-exome sequencing studies have shown that the WDR62 gene, located in the MCPH2 candidate region, is mutated in patients with severe brain malformations. We therefore sequenced the WDR62 gene in our MCPH2 families and identified two novel homozygous protein truncating mutations in two families. Affected individuals in the two ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794075 Thu, 14 Apr 2011 23:00:00 +0100 4794075 http://www.medworm.com/index.php?rid=4794073&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%3D21496010%26dopt%3DAbstract Authors: D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Désilets V, Nizard S, Michaud JL, Lemyre E Despite a wide range of clinical tools, the etiology of mental retardation and multiple congenital malformations remains unknown for many patients. Array-based comparative genomic hybridization (aCGH) has proven to be a valuable tool in these cases, as its pangenomic coverage allows the identification of chromosomal aberrations that are undetectable by other genetic methods targeting specific genomic regions. Therefore, aCGH is increasingly used in clinical genetics, both in the postnatal and the prenatal settings. While the diagnostic yield in the postnatal population has been established at 10-12%, studies investigating fetuses have reported variable results. We used whole-genome a... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794073 Thu, 14 Apr 2011 23:00:00 +0100 4794073 http://www.medworm.com/index.php?rid=4794082&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%3D21480867%26dopt%3DAbstract This report describes the first systematic screen for mutations in Chinese MPS I patients from mainland China, wherein we have summarized the phenotype/genotype correlation of the individuals in Chinese MPS I patients. Mutational analyses were performed for 57 unrelated Chinese MPS I patients. Overall, 105 mutant alleles were identified from a set of 41 different mutations. Notably, of these 41 mutations, 27 were novel mutations that consisted of 8 splicing mutations (c.1-2C>G, c.296+4G>A, c.300-1G>C, c.792+1G>C, c.973-4G>A, c.1189+5G>T, c.1402+1C>A and c.1402+2T>G), 1 nonsense mutation (p.W41X), 1 insertion (c.668-670ins GCG) , 5 duplications (c.531dupT, c.657dupG, c.883dupC, c.1147dupG and c.1225dupG), 3 deletions ( c.349delT, c.1593delG and c.1244-1271del27),1 nu... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794082 Sun, 10 Apr 2011 23:00:00 +0100 4794082 http://www.medworm.com/index.php?rid=4794081&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%3D21480868%26dopt%3DAbstract In this report, we describe a patient who demonstrates non-Mendelian inheritance of a homozygous missense mutation in SGCB resulting in disease expression. A combination of single-nucleotide polymorphism (SNP) array technology and microsatellite analysis revealed the occurrence of maternal uniparental disomy (UPD) for chromosome 4 in the patient. As a consequence of segmental isodisomy at 4q12, the patient inherited two identical SGCB alleles carrying a missense mutation predicted to result in abnormal protein function. SNP array technology proved to be an elegant means to determine the most probable mechanism of UPD formation in this case, and enabled us to determine the location of recombination events along chromosome 4. In our patient, UPD likely arose from a trisomy rescue event due t... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794081 Sun, 10 Apr 2011 23:00:00 +0100 4794081 http://www.medworm.com/index.php?rid=4794129&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%3D21476992%26dopt%3DAbstract Authors: Loesch D, Sherwell S, Kinsella G, Tassone F, Taylor A, Amor D, Sung S, Evans A Loesch DZ, Sherwell S, Kinsella G, Tassone F, Taylor A, Amor D, Sung S, Evans A. Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. The Fragile X syndrome is caused by a CGG repeat expansion >200 in the promoter of the Fragile X mental retardation 1 (FMR1) gene termed full mutation (FM). These alleles are silenced through methylation of the FMR1 promoter, leading to deficit of the FMR1 protein (FMRP), and neurodevelopmental changes. However, occasional FM individuals have a complete lack of methylation, and those typically have only minor deficit of FMRP levels compared with normal controls and their intelligence may be in the normal ran... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794129 Wed, 06 Apr 2011 23:00:00 +0100 4794129 http://www.medworm.com/index.php?rid=4794128&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%3D21476993%26dopt%3DAbstract Authors: Mongin C, Coulet F, Lefevre J, Colas C, Svrcek M, Eyries M, Lahely Y, Fléjou JF, Soubrier F, Parc Y Mongin C, Coulet F, Lefevre JH, Colas C, Svrcek M, Eyries M, Lahely Y, Fléjou J-F, Soubrier F, Parc Y. Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists. Two main colorectal polyposis syndromes have been described, familial adenomatous polyposis and MUTYH-associated polyposis syndromes. Some polyposis remains unexplained: 20% of adenomatous polyposis and serrated polyposis. The aim of this study was to evaluate in a cohort of patients with unexplained polyposis whether a genetic defect could be detected. Individuals presenting polyposis with more than 40 adenomas or more than 20 serrated polyps (hyperplastic, sessile serrated and mixed), ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794128 Wed, 06 Apr 2011 23:00:00 +0100 4794128 http://www.medworm.com/index.php?rid=4794103&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%3D21476994%26dopt%3DAbstract Authors: Kobelka C Carrier testing for severe childhood recessive diseases by next-generation sequencing Bell et al. (2011) Science Translational Medicine 3:65ra4. PMID: 21476994 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794103 Wed, 06 Apr 2011 23:00:00 +0100 4794103 http://www.medworm.com/index.php?rid=4794084&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%3D21476995%26dopt%3DAbstract Authors: Sawkins J Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity Lausch et al. (2011) Nature Genetics 43(2):132-137. PMID: 21476995 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794084 Wed, 06 Apr 2011 23:00:00 +0100 4794084 http://www.medworm.com/index.php?rid=4794083&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%3D21476996%26dopt%3DAbstract Authors: Kang M SLX4, a coordinator of structure-specific endo-nucleases, is mutated in a new Fanconi anemia subtype Stoepker et al. (2011) Nature Genetics 43:138-141 Mutations of the SLX4 gene in Fanconi anemia Kim et al. (2011) Nature Genetics 43:142-146. PMID: 21476996 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4794083 Wed, 06 Apr 2011 23:00:00 +0100 4794083 http://www.medworm.com/index.php?rid=4566376&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%3D21371013%26dopt%3DAbstract Authors: Suphapeetiporn K, Srichomthong C, Shotelersuk V PMID: 21371013 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4566376 Thu, 10 Mar 2011 05:15:23 +0100 4566376 http://www.medworm.com/index.php?rid=4566375&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%3D21371014%26dopt%3DAbstract Authors: Nucaro A, Pisano T, Chillotti I, Montaldo C, Pruna D PMID: 21371014 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4566375 Thu, 10 Mar 2011 05:15:20 +0100 4566375 http://www.medworm.com/index.php?rid=4566374&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%3D21371015%26dopt%3DAbstract Authors: Gau SS, Chen CH PMID: 21371015 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4566374 Thu, 10 Mar 2011 05:15:17 +0100 4566374 http://www.medworm.com/index.php?rid=4566373&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%3D21371016%26dopt%3DAbstract Authors: Palmirotta R, Guadagni F, Savonarola A, Ludovici G, De Marchis M, Palli D, Falchetti M, Ottini L PMID: 21371016 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4566373 Thu, 10 Mar 2011 05:15:13 +0100 4566373 http://www.medworm.com/index.php?rid=4566372&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%3D21371017%26dopt%3DAbstract Authors: Waanders E, Janssen M, Drenth J PMID: 21371017 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4566372 Thu, 10 Mar 2011 05:15:10 +0100 4566372 http://www.medworm.com/index.php?rid=4566371&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%3D21375527%26dopt%3DAbstract This study aimed to determine if MLH1 epimutations predispose to the development of young-onset colorectal cancer in an ethnically diverse population of South African subjects. 122 index cases with a diagnosis of colorectal cancer below 50 years of age, who had tested negative for a definitive pathogenic mutation of the key mismatch repair genes, were screened for constitutional MLH1 methylation in their leukocyte DNA. Monoallelic MLH1 epimutations were identified in two sporadic cases (1.6%); a male of black African descent and an Asian Indian female. Few alleles were affected by methylation in the female, indicating mosaicism. These cases provide further evidence of the aetiological role for MLH1 epimutations in cancer development and the requirement for sensitive molecular screening tec... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4566371 Fri, 04 Mar 2011 00:00:00 +0100 4566371 http://www.medworm.com/index.php?rid=4566377&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%3D21361913%26dopt%3DAbstract We describe a Chinese patient, born to non-consanguineous parents, who first presented at the age 6 with clumsy walking and difficult climbing of staircase. With a history of restrictive lung disease previously diagnosed as asthma, she progressed rapidly with proximal myopathy, rigid spine and bilateral tightening of the Achilles Tendons requiring surgical elongation. Hypertrophic cardiomyopathy with restrictive physiology was demonstrated by echocardiogram. Moreover, prolonged QT interval was also noted in the patient. Family history was unremarkable yet her father was incidentally found to have prolonged QTc. Mutation analysis with genomic DNA of the proband showed heterozygous de novo known mutation c.626C>T (p.Pro209Leu) and a germline variation c.772C>T (p.Arg258Trp) in BAG3. He... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4566377 Tue, 01 Mar 2011 00:00:00 +0100 4566377 http://www.medworm.com/index.php?rid=4452488&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%3D21294716%26dopt%3DAbstract Authors: Satgé D, Vekemans M PMID: 21294716 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4452488 Wed, 09 Feb 2011 20:15:16 +0100 4452488 http://www.medworm.com/index.php?rid=4452487&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%3D21294717%26dopt%3DAbstract Authors: Pussegoda K PMID: 21294717 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4452487 Wed, 09 Feb 2011 20:15:13 +0100 4452487 http://www.medworm.com/index.php?rid=4452486&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%3D21294718%26dopt%3DAbstract Authors: Sergi C, Kamnasaran D PMID: 21294718 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4452486 Wed, 09 Feb 2011 20:15:10 +0100 4452486 http://www.medworm.com/index.php?rid=4452485&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%3D21294719%26dopt%3DAbstract Authors: van Bon B, Hoischen A, Hehir-Kwa J, de Brouwer A, Ruivenkamp C, Gijsbers A, Marcelis C, de Leeuw N, Veltman J, Brunner H, de Vries B PMID: 21294719 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4452485 Wed, 09 Feb 2011 20:15:06 +0100 4452485 http://www.medworm.com/index.php?rid=4452493&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%3D21291452%26dopt%3DAbstract Conclusions Our data indicate that PTEN loss was involved in carcinogenesis in the two patients, supporting that colorectal cancer is part of the Cowden syndrome-spectrum. This is in line with data on sporadic colorectal cancer, mice studies and emerging epidemiological data on Cowden syndrome. Although the exact role of germline PTEN mutations in the carcinogenesis of colorectal cancer remains unclear, we think that Cowden syndrome should be in the differential diagnosis of colorectal cancer certainly in view of the possible prognostic and therapeutic consequences. Prospective follow-up and surveillance of PTEN mutation carriers from the age of 25-30 years in a study setting should clarify this issue. PMID: 21291452 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4452493 Thu, 03 Feb 2011 00:00:00 +0100 4452493 http://www.medworm.com/index.php?rid=4452492&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%3D21291453%26dopt%3DAbstract Authors: Petra L, Radim M, Petr V, Dana S, Jana H, Jana S, Pavel S Charcot-Marie-Tooth (CMT) neuropathy type 4C (CMT4C) is an autosomal recessive (AR), demyelinating neuropathy with early spine deformities caused by mutations in the SH3TC2 gene. To determine the spectrum of SH3TC2 mutations in the Czech population the entire coding region of SH3TC2 was sequenced in 60 unrelated Czech patients. The prevalent mutation was shown to be the p.Arg954Stop. Therefore 412 additional patients referred for CMT testing were tested for the presence of p.Arg954Stop only. Of 60 patients in whom the SH3TC2 gene was sequenced, at least one mutation was detected in 13 patients (21.7%) and biallelic pathogenic mutations were detected in seven (11.6%) patients. Of the 412 patients tested for p.Arg954Stop,... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4452492 Thu, 03 Feb 2011 00:00:00 +0100 4452492 http://www.medworm.com/index.php?rid=4452491&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%3D21291454%26dopt%3DAbstract Authors: Sohn YB, Ki CS, Kim CH, Ko AR, Yook YJ, Lee SJ, Kim SJ, Park SW, Yeau S, Kwon EK, Han SJ, Choi EW, Lee SY, Kim JW, Jin DK Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). Since MPS II is X-linked, patients are usually males with heterogeneous mutations ranging from point mutations to gross deletions and recombination. In 2003, we reported a mutation analysis of 25 patients with MPS II. In the current study, 31 mutations in another 49 Korean patients (45 families) with MPS II are reported: twelve missense, nine deletions, four splicing, two nonsense, two insertions, one deletion/insertion, and IDS-IDS2 recombination mutations. Among these mutations, 11 were novel ones (four miss... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4452491 Thu, 03 Feb 2011 00:00:00 +0100 4452491 http://www.medworm.com/index.php?rid=4452490&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%3D21291455%26dopt%3DAbstract This study revealed that the frequencies of CMTX with Cx32 mutations are different ethnic group specifically. The frequency of CMTX (5.3%) caused by Cx32 mutation in Koreans is similar to those in Asians, but lower than those in Europeans. This study suggests differences between CMTX patients with Cx32 mutations and ethnic background. PMID: 21291455 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4452490 Thu, 03 Feb 2011 00:00:00 +0100 4452490 http://www.medworm.com/index.php?rid=4452489&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%3D21291456%26dopt%3DAbstract Authors: Huang K M/S: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency Haack et al., 2010 Nature Genetics 42: 1131-1134. PMID: 21291456 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4452489 Thu, 03 Feb 2011 00:00:00 +0100 4452489 http://www.medworm.com/index.php?rid=4387395&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%3D21210779%26dopt%3DAbstract Authors: Meneses F, Schnabel B, Silva I, Alberto F, Toma L, Nader H, Lopes C PMID: 21210779 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4387395 Sun, 23 Jan 2011 21:46:29 +0100 4387395 http://www.medworm.com/index.php?rid=4387394&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%3D21210780%26dopt%3DAbstract Authors: Bohlega S, Alazami A, Cupler E, Al-Hindi H, Ibrahim E, Alkuraya F PMID: 21210780 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4387394 Sun, 23 Jan 2011 21:46:19 +0100 4387394 http://www.medworm.com/index.php?rid=4387393&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%3D21210781%26dopt%3DAbstract Authors: Nagao K, Fujii K, Saito K, Sugita K, Endo M, Motojima T, Hatsuse H, Miyashita T PMID: 21210781 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4387393 Sun, 23 Jan 2011 21:46:08 +0100 4387393 http://www.medworm.com/index.php?rid=4387389&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%3D21231928%26dopt%3DAbstract This study describes the prevalence and molecular characterization of abnormal Hbs in eastern Guangdong. PMID: 21231928 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4387389 Thu, 13 Jan 2011 00:00:00 +0100 4387389 http://www.medworm.com/index.php?rid=4387388&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%3D21231929%26dopt%3DAbstract Authors: Michela B, Maire K, Pauline H, Ylva F Hereditary coproporphyria (HCP) is an autosomal dominantly inherited hepatic porphyria, caused by a mutation in the CPOX gene. The genetic defect leads to a partial defect of coproporphyrinogen oxidase, the sixth enzyme involved in heme biosynthesis. Affected individuals can develop acute life threatening attacks of neurovisceral symptoms and/or more rarely cutaneous symptoms such as skin fragility and blistering. The identification of the genetic defect in HCP families is of crucial importance to detect the carrier status which allows counselling to prevent possible triggering factors, e.g. certain drugs, alcohol, or fasting. In a total of nine Swedish HCP families, routine gene sequence analysis had identified a causative mutation in onl... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4387388 Thu, 13 Jan 2011 00:00:00 +0100 4387388 http://www.medworm.com/index.php?rid=4387387&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%3D21231930%26dopt%3DAbstract Authors: Huang K M/S: Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections Wang et al., 2010 The American Journal of Human Genetics 87, 701-707. PMID: 21231930 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4387387 Thu, 13 Jan 2011 00:00:00 +0100 4387387 http://www.medworm.com/index.php?rid=4387386&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%3D21231931%26dopt%3DAbstract Authors: Huang K M/S: A de novo paradigm for mental retardation Vissers et al., 2010 Nature Genetics 42, 1109-1112. PMID: 21231931 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4387386 Thu, 13 Jan 2011 00:00:00 +0100 4387386 http://www.medworm.com/index.php?rid=4387392&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%3D21214875%26dopt%3DAbstract In conclusion, two TMEM43 sequence variants were identified in this Danish ARVC cohort. Evaluation of the expression of TMEM43 showed a unique cardiac localization. The immunoreactive signal for the desmosomal protein plakoglobin was reduced in mutation carriers. The TMEM43 gene underlies a distinctive form of ARVC which may share a final common pathway with desmosome-associated ARVC. PMID: 21214875 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4387392 Mon, 10 Jan 2011 00:00:00 +0100 4387392 http://www.medworm.com/index.php?rid=4387391&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%3D21214876%26dopt%3DAbstract Authors: Arnoldi A, Crimella C, Tenderini E, Martinuzzi A, Grazia D'Angelo M, Musumeci O, Toscano A, Scarlato M, Fantin M, Bresolin N, Bassi MT Spastic paraplegia type 5 (SPG5) is caused by mutations in CYP7B1, a gene encoding the cytochrome P-450 oxysterol 7-α-hydroxylase, CYP7B1, an enzyme implicated in cholesterol metabolism. Mutations in CYP7B1 were found in both pure and complicated forms of the disease with a mutation frequency of 7.7% in pure recessive cases. The mutation frequency in complex forms, approximately 6.6%, is more controversial and needs to be refined. We studied in more detail the SPG5-related spectrum of complex phenotypes by screening CYP7B1 for mutations in a large cohort of 105 Italian HSP index patients including 50 patients with a complicated phenotype (cHSP... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4387391 Mon, 10 Jan 2011 00:00:00 +0100 4387391 http://www.medworm.com/index.php?rid=4387390&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%3D21214877%26dopt%3DAbstract Conclusion: Seven novel mutations are here reported, contributing to our knowledge of the mutational spectrum of these diseases and to a better understanding of the genetics of the lysosomal multienzymatic complex. The results of this study will allow carrier detection in affected families and prenatal molecular diagnosis, leading to the improvement of genetic counselling. PMID: 21214877 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4387390 Mon, 10 Jan 2011 00:00:00 +0100 4387390 http://www.medworm.com/index.php?rid=4387396&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%3D21199491%26dopt%3DAbstract This study aims to evaluate the incidence of breast cancer after risk-reducing mastectomy (RRM) in healthy BRCA mutation carriers. This study is a long-term follow-up of 307 BRCA mutation carriers of whom 96 chose RRM. None of the study participants had a previous history of breast or ovarian cancer nor had they undergone RRM or risk-reducing bilateral salpingo-oophorectomy (BSO) prior to the time of BRCA testing. The annual incidence of post-mastectomy breast cancer was 0.8% compared with 1.7% in the non-operated group. Implications of these findings in relation to genetic counseling and future management are discussed. PMID: 21199491 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4387396 Tue, 04 Jan 2011 00:00:00 +0100 4387396 http://www.medworm.com/index.php?rid=4295328&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%3D21143467%26dopt%3DAbstract Authors: Merner ND, Dion PA, Rouleau GA Distal hereditary motor neuropathy (dHMN) is a sub-group of Charcot-Marie-Tooth disease (CMT), the most common peripheral neuropathy, that affects only motor neurons. The recent observation of ATP7A mutations in dHMN provides insight for a common disease mechanism that may involve copper homeostasis. Functionally, diverse proteins were previously shown to underlie dHMN and a convergent link is destined to unfold for some of these. We propose connections between copper and known dHMN genes that overlap also with the causative genes of other motor neuron disorders (MNDs). PMID: 21143467 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4295328 Wed, 29 Dec 2010 22:47:29 +0100 4295328 http://www.medworm.com/index.php?rid=4295327&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%3D21143468%26dopt%3DAbstract Authors: Gjone H, Diseth TH, Fausa O, Nøvik TS, Heiberg A Familial adenomatous polyposis (FAP) in a parent requires diagnostic follow-up and treatment from adolescence in possible gene carriers in order to prevent cancer development. A nationwide sample (n = 22) of adolescent FAP offspring including 85% of eligible individuals aged 11-20 years and their parents were interviewed with regard to adolescent mental health, psychosocial functioning, knowledge about FAP and genetic risk, and experiences with testing and surgery. Thirty-six percent of the FAP offspring fulfilled criteria for a psychiatric diagnosis. For adolescents older than 15 years, this was increased relative to a comparison group with Hirschprung's disease and a general population sample. Neither genetic testing nor FAP ... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4295327 Wed, 29 Dec 2010 22:47:25 +0100 4295327 http://www.medworm.com/index.php?rid=4295326&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%3D21143469%26dopt%3DAbstract Authors: Castori M, Castiglia D, Brancati F, Foglio M, Heath S, Floriddia G, Madonna S, Fischer J, Zambruno G PMID: 21143469 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4295326 Wed, 29 Dec 2010 22:47:20 +0100 4295326 http://www.medworm.com/index.php?rid=4295325&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%3D21143470%26dopt%3DAbstract Authors: Alimadadi A, Ebrahim-Habibi A, Abbasi F, Amoli M, Sayahpour FA, Larijani B PMID: 21143470 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4295325 Wed, 29 Dec 2010 22:47:16 +0100 4295325 http://www.medworm.com/index.php?rid=4295324&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%3D21143471%26dopt%3DAbstract Authors: Emmel VE, Alonso I, Jardim LB, Saraiva-Pereira ML, Sequeiros J PMID: 21143471 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4295324 Wed, 29 Dec 2010 22:47:11 +0100 4295324 http://www.medworm.com/index.php?rid=4134583&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%3D21044051%26dopt%3DAbstract Authors: Steindl K, Alazami A, Bhatia K, Wuerfel J, Petersen D, Cartolari R, Neri G, Klein C, Mongiardo B, Alkuraya F, Schneider S PMID: 21044051 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4134583 Fri, 05 Nov 2010 06:20:22 +0100 4134583 http://www.medworm.com/index.php?rid=4134582&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%3D21044052%26dopt%3DAbstract Authors: Pacifico L, Carducci C, Poggiogalle E, Caravona F, Antonozzi I, Chiesa C, Maggiore G PMID: 21044052 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4134582 Fri, 05 Nov 2010 06:20:19 +0100 4134582 http://www.medworm.com/index.php?rid=4134581&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%3D21044053%26dopt%3DAbstract Authors: Bashir R, Fatima A, Naz S PMID: 21044053 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4134581 Fri, 05 Nov 2010 06:20:15 +0100 4134581 http://www.medworm.com/index.php?rid=4134587&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%3D21039427%26dopt%3DAbstract Authors: Pajukanta P PMID: 21039427 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4134587 Mon, 01 Nov 2010 00:00:00 +0100 4134587 http://www.medworm.com/index.php?rid=4134586&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%3D21039428%26dopt%3DAbstract Authors: Corton M, Blanco M, Torres M, Sanchez-Salorio M, Carracedo A, Brion M PMID: 21039428 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4134586 Mon, 01 Nov 2010 00:00:00 +0100 4134586 http://www.medworm.com/index.php?rid=4134585&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%3D21039429%26dopt%3DAbstract Authors: Brenner C, Huber B, Becker A, Ostermann H, Becker C, Steinbeck G, Franz WM PMID: 21039429 [PubMed - in process] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4134585 Mon, 01 Nov 2010 00:00:00 +0100 4134585 http://www.medworm.com/index.php?rid=4134584&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%3D21039430%26dopt%3DAbstract Authors: Stacey M, Neumann S, Dooley A, Segna K, Kelly R, Nuss D, Kuhn A, Goretsky M, Fecteau A, Pastor A, Proud V PMID: 21039430 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4134584 Mon, 01 Nov 2010 00:00:00 +0100 4134584 http://www.medworm.com/index.php?rid=4120949&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%3D21029075%26dopt%3DAbstract Authors: Wong B Olig1 and Olig2 triplication causes developmental brain defects in Down syndrome Chakrabarti et al. (2010) Nature Neuroscience 13(8):927-934. PMID: 21029075 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4120949 Wed, 29 Sep 2010 00:00:00 +0100 4120949 http://www.medworm.com/index.php?rid=4087332&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%3D20950399%26dopt%3DAbstract This report adds to the growing list of autosomal recessive syndromic CI conditions and defines a linkage interval harboring a gene which probably plays a vital role in brain development. PMID: 20950399 [PubMed - as supplied by publisher] (Source: Clinical Genetics) Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4087332 Tue, 28 Sep 2010 23:00:00 +0100 4087332 http://www.medworm.com/index.php?rid=4087337&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%3D20950377%26dopt%3DAbstract Authors: Perdu B, Lakeman P, Mortier G, Koenig R, Lachmeijer A, Van Hul W Perdu B, Lakeman P, Mortier G, Koenig R, Lachmeijer AMA, Van Hul W. Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. Osteopathia striata with cranial sclerosis (OMIM ##300373) is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae. In males this entity is usually associated with foetal or neonatal lethality, because of severe heart defects and/or gastrointestinal malformations, and is often accompanied by bilateral fibula aplasia. Recen... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4087337 Thu, 23 Sep 2010 23:00:00 +0100 4087337 http://www.medworm.com/index.php?rid=4087336&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%3D20950395%26dopt%3DAbstract Authors: Yano S, Baskin B, Bagheri A, Watanabe Y, Moseley K, Nishimura A, Matsumoto N, Ray P Yano S, Baskin B, Bagheri A, Watanabe Y, Moseley K, Nishimura A, Matsumoto N, Ray PN. Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth/multiple congenital anomalies syndrome with an X-linked inheritance. Most cases of SGBS are attributed to mutations in the glypican 3-gene (GPC3), which is highly expressed in the mesodermal embryonic tissues and involves in a local growth regulation. Typical clinical features include pre/postnatal overgrowth, developmental delay, macrocephaly, characteristic facies with prominent eyes and macroglossia, diaphr... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4087336 Thu, 23 Sep 2010 23:00:00 +0100 4087336 http://www.medworm.com/index.php?rid=4087333&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%3D20950398%26dopt%3DAbstract Authors: Tan YC, Blumenfeld J, Michaeel A, Donahue S, Balina M, Parker T, Levine D, Rennert H Tan Y-C, Blumenfeld J, Michaeel A, Donahue S, Balina M, Parker T, Levine D, Rennert H. Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease. Autosomal-dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder characterized by abnormal proliferation of renal tubular epithelium, leading to massive kidney enlargement and progressive chronic kidney disease. ADPKD is caused by mutations in PKD1 and PKD2 genes. Herein, we describe and characterize a novel missense mutation in the PKD2 gene (c.1320G>T) in a 41-year-old White man with kidney cysts and a family history of ADPKD. This mutation abolishes a conserved accep... Clinical Genetics journals http://www.medworm.com/rss/comments.php?id=4087333 Thu, 23 Sep 2010 23:00:00 +0100 4087333