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An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Evans, D G R, Wallace, A Tags: Correspondence Source Type: journals

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Large scale deletions and duplications can cause CACNA1A associated channelopathies. Direct DNA sequencing alone is not sufficient as a diagnostic screening test. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Labrum, R W, Rajakulendran, S, Graves, T D, Eunson, L H, Bevan, R, Sweeney, M G, Hammans, S R, Tubridy, N, Britton, T, Carr, L J, Ostergaard, J R, Kennedy, C R, Al-Memar, A, Kullmann, D M, Schorge, S, Temple, K, Davis, M B, Hanna, M G Tags: Eye Diseases, Molecular genetics, Immunology (including allergy), Headache (including migraine), Epidemiology Mutation reports Source Type: journals

The unfolding clinical spectrum of POLG mutationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: The clinical features of the patient are the most important features to select putative POLG mutation carriers and not the presence of mtDNA deletions or OXPHOS (oxidative phosphorylation) activity. The authors conclude that POLG mutations are an important cause of heterogeneous mitochondrial pathology and that more accurate genotype–phenotype correlations allow a more rapid genetic diagnosis and improved prognosis for mutation carriers. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Blok, M J, van den Bosch, B J, Jongen, E, Hendrickx, A, de Die-Smulders, C E, Hoogendijk, J E, Brusse, E, de Visser, M, Poll-The, B T, Bierau, J, de Coo, I F, Smeets, H J Tags: Liver disease, Eye Diseases, Epilepsy and seizures, Muscle disease, Neuromuscular disease, Metabolic disorders Mutation reports Source Type: journals

A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: A common, functional polymorphism in the promoter region of the UCP2 gene is associated with hyperglycaemia and insulin resistance in severe sepsis. This has implications for our understanding of the genetic pathophysiology of sepsis and is of use in the stratification of patients for more intensive management. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Pyle, A, Ibbett, I M, Gordon, C, Keers, S M, Walker, M, Chinnery, P F, Baudouin, S V Tags: Molecular genetics, Diabetes, Metabolic disorders Letters to JMG Source Type: journals

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: These results suggest that TP53 PIN3 is another polymorphism in the TP53 pathway that may have a modifier effect on germline TP53 mutations and may contribute to the phenotypic diversity of germline TP53 mutations associated with LFS/LFL patients. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Marcel, V, Palmero, E I, Falagan-Lotsch, P, Martel-Planche, G, Ashton-Prolla, P, Olivier, M, Brentani, R R, Hainaut, P, Achatz, M I Tags: Molecular genetics, Breast cancer, Screening (oncology) Letters to JMG Source Type: journals

Deregulation of EIF4E: a novel mechanism for autismEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: These observations implicate EIF4E, and more specifically control of EIF4E activity, directly in autism. The findings raise the exciting possibility that pharmacological manipulation of EIF4E may provide therapeutic benefit for those with autism caused by disturbance of the converging pathways controlling EIF4E activity. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Neves-Pereira, M, Muller, B, Massie, D, Williams, J H G, O'Brien, P C M, Hughes, A, Shen, S-B, Clair, D. S., Miedzybrodzka, Z Tags: Molecular genetics Letters to JMG Source Type: journals

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screeningEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: These results suggest that R117H should be withdrawn from CF mutation panels used for screening programmes. The real impact of so-called disease mutations should be assessed before including them in newborn or preconceptional carrier screening programmes. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Thauvin-Robinet, C, Munck, A, Huet, F, Genin, E, Bellis, G, Gautier, E, Audrezet, M-P, Ferec, C, Lalau, G, Georges, M D., Claustres, M, Bienvenu, T, Gerard, B, Boisseau, P, Cabet-Bey, F, Feldmann, D, Clavel, C, Bieth, E, Iron, A, Simon-Bouy, B, Costa, C, Tags: Pancreas and biliary tract, Genetic screening / counselling, Molecular genetics, Cystic fibrosis, Epidemiology Letter to JMG Source Type: journals

Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic settingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The Edinburgh and Premm1,2 model were the models with the best performance for an intermediate to high risk setting. These models may well be of use in clinical practice to select patients for further testing of mismatch repair gene mutations. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Ramsoekh, D, van Leerdam, M E, Wagner, A, Kuipers, E J, Steyerberg, E W Tags: Molecular genetics, Colon cancer Original articles Source Type: journals

Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: The data establish PSORS6 as a confirmed psoriasis susceptibility locus showing interaction with PSORS1. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Huffmeier, U, Lascorz, J, Becker, T, Schurmeier-Horst, F, Magener, A, Ekici, A B, Endele, S, Thiel, C T, Thoma-Uszynski, S, Mossner, R, Reich, K, Kurrat, W, Wienker, T F, Traupe, H, Reis, A Tags: Genetic screening / counselling, Molecular genetics, Immunology (including allergy), Dermatology Original articles Source Type: journals

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgeryEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Based on higher mutation prevalence the authors propose that GLI3, HOXD13 and the ZRS of SHH should be prioritised for introduction into molecular genetic testing programmes for CLM. The authors have developed simple criteria that can refine the selection of patients by surgeons for referral to clinical geneticists. The cohort also represents an excellent resource to test for mutations in novel candidate genes. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Furniss, D, Kan, S-h, Taylor, I B, Johnson, D, Critchley, P S, Giele, H P, Wilkie, A O M Tags: Genetic screening / counselling, Breast cancer, Epidemiology Original articles Source Type: journals

Encephalocraniocutaneous lipomatosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Revised diagnostic criteria are proposed. ECCL is considered to differ from Proteus syndrome in particular, but oculoectodermal syndrome is possibly a mild variant. Pathogenetically, mosaicism for a mutated autosomal gene involved in multiple mesenchymal tumours and vasculogenesis, with or without a second hit event, is discussed. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Moog, U Tags: Molecular genetics, Congenital heart disease, Epilepsy and seizures, Reproductive medicine, Dermatology, Calcium and bone Review Source Type: journals

Phenotype and genotype in 17 patients with Goltz-Gorlin syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: PORCN mutations can be found in all classically affected cases of Goltz–Gorlin syndrome, including males. Somatic and germline mosaicism occur. There is no evident genotype–phenotype correlation. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Maas, S M, Lombardi, M P, van Essen, A J, Wakeling, E L, Castle, B, Temple, I K, Kumar, V K A, Writzl, K, Hennekam, R. C M Tags: Urological cancer, Dermatology, Calcium and bone Mutation report Source Type: journals

ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: This study shows that 16% of Caucasian patients with ICP bear ABCB4 gene mutations, and confirms the significant involvement of this gene in the pathogenesis of this complex disorder. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Bacq, Y, Gendrot, C, Perrotin, F, Lefrou, L, Chretien, S, Vie-Buret, V, Brechot, M-C, Andres, C R Tags: Liver disease, Pancreas and biliary tract, Genetic screening / counselling, Molecular genetics, Reproductive medicine, Dermatology Letters to JMG Source Type: journals

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: In contrast to patients with deletion of the region (Miller–Dieker syndrome) the patients reported here had mild to moderate retardation and displayed no lissencephaly or gross brain malformations. Further cases with similar duplications are expected to be diagnosed, and will contribute to the delineation of a potential new microduplication syndrome of 17p13. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Roos, L, Jonch, A E, Kjaergaard, S, Taudorf, K, Simonsen, H, Hamborg-Petersen, B, Brondum-Nielsen, K, Kirchhoff, M Tags: Letters to JMG Source Type: journals

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangementsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: These new cases, combined with previously described cases, demonstrate that U-type exchange is the most frequent mechanism for this rearrangement and can be observed on most, or perhaps all, chromosome arms. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Rowe, L R, Lee, J-Y, Rector, L, Kaminsky, E B, Brothman, A R, Martin, C L, South, S T Tags: Letters to JMG Source Type: journals

High frequency of de novo mutations in Li-Fraumeni syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The possibility that de novo germline TP53 mutations are relatively common has implications for testing and the identification of potential Li–Fraumeni syndrome in patients with little or no family history of cancer. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Gonzalez, K D, Buzin, C H, Noltner, K A, Gu, D, Li, W, Malkin, D, Sommer, S S Tags: Breast cancer, Screening (oncology) Letters to JMG Source Type: journals

Phenomic determinants of genomic variation in autism spectrum disordersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study evaluated a broad categorisation of phenotypic traits (or phenome) for 100 subjects with Autism Diagnostic Interview-Revised/Autism Diagnostic Observation Schedule-Generic (ADI-R/ADOS-G) confirmed idiopathic ASD undergoing 1 Mb bacterial artificial chromosome (BAC) array comparative genomic hybridisation (CGH). Results and conclusions: Array CGH uncovered nine different pathogenic copy number variants (pCNVs) in 9/100 ASD subjects having complex phenotypes (ASD± intellectual disability (ID; IQ<70)) and/or physical anomalies), normal karyotype, fragile X analysis, and comprehensive evaluation by a clin...
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Qiao, Y, Riendeau, N, Koochek, M, Liu, X, Harvard, C., Hildebrand, M J, Holden, J J A, Rajcan-Separovic, E, Lewis, M E S Tags: Original articles Source Type: journals

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severityEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The results show that changes in the physicochemical properties of amino acids affected both the phenotype and clinical symptoms of patients with SCN1A missense mutations. This meta-analysis study provides new insights into SCN1A gene functions and a new strategy for genetic diagnosis, genetic counselling and epilepsy treatment. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Kanai, K, Yoshida, S, Hirose, S, Oguni, H, Kuwabara, S, Sawai, S, Hiraga, A, Fukuma, G, Iwasa, H, Kojima, T, Kaneko, S Tags: Molecular genetics, Epilepsy and seizures Original articles Source Type: journals

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome [Mutation report]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: PORCN mutations can be found in all classically affected cases of Goltz–Gorlin syndrome, including males. Somatic and germline mosaicism occur. There is no evident genotype–phenotype correlation. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Maas, S M, Lombardi, M P, van Essen, A J, Wakeling, E L, Castle, B, Temple, I K, Kumar, V K A, Writzl, K, Hennekam, R. C M Tags: Urological cancer, Dermatology, Calcium and bone Mutation report Source Type: journals

ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy [Letters to JMG]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: This study shows that 16% of Caucasian patients with ICP bear ABCB4 gene mutations, and confirms the significant involvement of this gene in the pathogenesis of this complex disorder. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Bacq, Y, Gendrot, C, Perrotin, F, Lefrou, L, Chretien, S, Vie-Buret, V, Brechot, M-C, Andres, C R Tags: Liver disease, Pancreas and biliary tract, Genetic screening / counselling, Molecular genetics, Reproductive medicine, Dermatology Letters to JMG Source Type: journals

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome [Letters to JMG]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: In contrast to patients with deletion of the region (Miller–Dieker syndrome) the patients reported here had mild to moderate retardation and displayed no lissencephaly or gross brain malformations. Further cases with similar duplications are expected to be diagnosed, and will contribute to the delineation of a potential new microduplication syndrome of 17p13. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Roos, L, Jonch, A E, Kjaergaard, S, Taudorf, K, Simonsen, H, Hamborg-Petersen, B, Brondum-Nielsen, K, Kirchhoff, M Tags: Letters to JMG Source Type: journals

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements [Letters to JMG]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: These new cases, combined with previously described cases, demonstrate that U-type exchange is the most frequent mechanism for this rearrangement and can be observed on most, or perhaps all, chromosome arms. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Rowe, L R, Lee, J-Y, Rector, L, Kaminsky, E B, Brothman, A R, Martin, C L, South, S T Tags: Letters to JMG Source Type: journals

High frequency of de novo mutations in Li-Fraumeni syndrome [Letters to JMG]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The possibility that de novo germline TP53 mutations are relatively common has implications for testing and the identification of potential Li–Fraumeni syndrome in patients with little or no family history of cancer. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Gonzalez, K D, Buzin, C H, Noltner, K A, Gu, D, Li, W, Malkin, D, Sommer, S S Tags: Breast cancer, Screening (oncology) Letters to JMG Source Type: journals

Phenomic determinants of genomic variation in autism spectrum disorders [Original articles]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study evaluated a broad categorisation of phenotypic traits (or phenome) for 100 subjects with Autism Diagnostic Interview-Revised/Autism Diagnostic Observation Schedule-Generic (ADI-R/ADOS-G) confirmed idiopathic ASD undergoing 1 Mb bacterial artificial chromosome (BAC) array comparative genomic hybridisation (CGH). Results and conclusions: Array CGH uncovered nine different pathogenic copy number variants (pCNVs) in 9/100 ASD subjects having complex phenotypes (ASD± intellectual disability (ID; IQ<70)) and/or physical anomalies), normal karyotype, fragile X analysis, and comprehensive evaluation by a clin...
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Qiao, Y, Riendeau, N, Koochek, M, Liu, X, Harvard, C., Hildebrand, M J, Holden, J J A, Rajcan-Separovic, E, Lewis, M E S Tags: Original articles Source Type: journals

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity [Original articles]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The results show that changes in the physicochemical properties of amino acids affected both the phenotype and clinical symptoms of patients with SCN1A missense mutations. This meta-analysis study provides new insights into SCN1A gene functions and a new strategy for genetic diagnosis, genetic counselling and epilepsy treatment. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Kanai, K, Yoshida, S, Hirose, S, Oguni, H, Kuwabara, S, Sawai, S, Hiraga, A, Fukuma, G, Iwasa, H, Kojima, T, Kaneko, S Tags: Molecular genetics, Epilepsy and seizures Original articles Source Type: journals

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Otto, E A, Tory, K, Attanasio, M, Zhou, W, Chaki, M, Paruchuri, Y, Wise, E L, Wolf, M T F, Utsch, B, Becker, C, Nurnberg, G, Nurnberg, P, Nayir, A, Saunier, S, Antignac, C, Hildebrandt, F Tags: Liver disease, Eye Diseases, Genetic screening / counselling, Molecular genetics, Renal medicine Original articles Source Type: journals

Association of chromosome 2q36.1-36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese familiesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: This is the first report which proposes one of the new genetic models of autosomal dominant transmission in AS. The breakthrough in the identification of linkage to chromosome 2q36.1–2q36.3 and the HLA-B region highlights the future potential of more comprehensive genetic studies of determinants of disease risk. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Gu, J, Huang, J, Li, C, Zhao, L, Huang, F, Liao, Z, Li, T, Wei, Q, Lin, Z, Pan, Y, Huang, J, Wang, X, Lin, Q, Lu, C, Wu, Y, Cao, S, Wu, J, Xu, H, Yu, B, Shen, Y Tags: Clinical genetics, Genetic screening / counselling, Immunology (including allergy), Connective tissue disease, Rheumatoid arthritis, Calcium and bone Original articles Source Type: journals

Long-range regulation at the SOX9 locus in development and diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The involvement of SOX9 in congenital skeletal malformation was demonstrated 15 years ago with the identification of mutations in and around the gene in patients with campomelic dysplasia (CD). Translocations upstream of the coding sequence suggested that altered expression of SOX9 was capable of severely impacting on skeletal development. Subsequent studies in humans and animal models pointed towards a complex regulatory region controlling SOX9 transcription, involving ~1 Mb of upstream sequence. Recent data indicate that this regulatory domain may extend substantially further, with identification of several disruptions g...
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Gordon, C T, Tan, T Y, Benko, S, FitzPatrick, D, Lyonnet, S, Farlie, P G Tags: Review Source Type: journals

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) [Original articles]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Otto, E A, Tory, K, Attanasio, M, Zhou, W, Chaki, M, Paruchuri, Y, Wise, E L, Wolf, M T F, Utsch, B, Becker, C, Nurnberg, G, Nurnberg, P, Nayir, A, Saunier, S, Antignac, C, Hildebrandt, F Tags: Liver disease, Eye Diseases, Genetic screening / counselling, Molecular genetics, Renal medicine Original articles Source Type: journals

Association of chromosome 2q36.1-36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families [Original articles]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: This is the first report which proposes one of the new genetic models of autosomal dominant transmission in AS. The breakthrough in the identification of linkage to chromosome 2q36.1–2q36.3 and the HLA-B region highlights the future potential of more comprehensive genetic studies of determinants of disease risk. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Gu, J, Huang, J, Li, C, Zhao, L, Huang, F, Liao, Z, Li, T, Wei, Q, Lin, Z, Pan, Y, Huang, J, Wang, X, Lin, Q, Lu, C, Wu, Y, Cao, S, Wu, J, Xu, H, Yu, B, Shen, Y Tags: Clinical genetics, Genetic screening / counselling, Immunology (including allergy), Connective tissue disease, Rheumatoid arthritis, Calcium and bone Original articles Source Type: journals

Long-range regulation at the SOX9 locus in development and disease [Review]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The involvement of SOX9 in congenital skeletal malformation was demonstrated 15 years ago with the identification of mutations in and around the gene in patients with campomelic dysplasia (CD). Translocations upstream of the coding sequence suggested that altered expression of SOX9 was capable of severely impacting on skeletal development. Subsequent studies in humans and animal models pointed towards a complex regulatory region controlling SOX9 transcription, involving ~1 Mb of upstream sequence. Recent data indicate that this regulatory domain may extend substantially further, with identification of several disruptions g...
Source: Journal of Medical Genetics - October 1, 2009 Category: Genetics & Stem Cells Authors: Gordon, C T, Tan, T Y, Benko, S, FitzPatrick, D, Lyonnet, S, Farlie, P G Tags: Review Source Type: journals

[PostScript] What is paradominant inheritance?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Happle, R Tags: PostScript Source Type: journals

[PostScript] MECP2 mutation in one of Rett's original patientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Freilinger, M, Berndt, A, Haas, O A Tags: PostScript Source Type: journals

[PostScript] A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Liang, J-S, Shimojima, K, Ohno, K, Sugiura, C, Une, Y, Ohno, K, Yamamoto, T Tags: PostScript Source Type: journals

[Letter to JMG] Differences in SMN1 allele frequencies among ethnic groups within North AmericaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Differences in the frequency of SMA carriers were significant among several ethnic groups. This study provides an accurate assessment of allele frequencies and estimates of adjusted genetic risk that were previously unavailable to clinicians and patients considering testing. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Hendrickson, B C, Donohoe, C, Akmaev, V R, Sugarman, E A, Labrousse, P, Boguslavskiy, L, Flynn, K, Rohlfs, E M, Walker, A, Allitto, B, Sears, C, Scholl, T Tags: Letter to JMG Source Type: journals

[Letters to JMG] 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Based on these results, the authors suggest that this chromosomal abnormality may represent a novel clinically recognisable microdeletion syndrome caused by haploinsufficiency of dosage sensitive genes in the 19q13.11 region. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Malan, V, Raoul, O, Firth, H V, Royer, G, Turleau, C, Bernheim, A, Willatt, L, Munnich, A, Vekemans, M, Lyonnet, S, Cormier-Daire, V, Colleaux, L Tags: Letters to JMG Source Type: journals

[Letters to JMG] Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The results confirm the notion that duplication CNV of genes can be a common mechanism for human genetic diseases. Defining the clinical consequences for a specific gene dosage alteration represents a new "reverse genomics" trend in medical genetics that is reciprocal to the traditional approach of delineation of the common clinical phenotype preceding the discovery of the genetic aetiology. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Yan, J, Zhang, F, Brundage, E, Scheuerle, A, Lanpher, B, Erickson, R P, Powis, Z, Robinson, H B, Trapane, P L, Stachiw-Hietpas, D, Keppler-Noreuil, K M, Lalani, S R, Sahoo, T, Chinault, A C, Patel, A, Cheung, S W, Lupski, J R Tags: Letters to JMG Source Type: journals

[Letters to JMG] ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study describes a novel ADVIRC mutation and show that it disrupts an exonic splice enhancer (ESE) site, altering the binding of a splicing-associated SR protein. As with previous ADVIRC mutations, the novel c.704T->C mutation in exon 6 altered normal splicing in an ex vivo splicing assay. Both this and another exon 6 ADVIRC-causing mutation (c.707G->A) either weakened or abolished splicing in an ESE-dependent splice assay compared with a nearby exon 6 mutation associated with Best disease (c.703G->C). Gel shift assays were undertaken with RNA oligonucleotides encompassing the ADVIRC and Best disease mutations...
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Burgess, R, MacLaren, R E, Davidson, A E, Urquhart, J E, Holder, G E, Robson, A G, Moore, A T, Keefe, R O, Black, G C M, Manson, F D C Tags: Letters to JMG Source Type: journals

[Letter to JMG] Association of IL18RAP and CCR3 with coeliac disease in the Spanish populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: The association of the 3p21 genetic region with CD susceptibility in the Spanish population was confirmed. In 2q12, the initially described OR is most probably overestimated and therefore the real situation may be the existence of a genuine but weak risk factor, which generates statistical power limitations. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Dema, B, Martinez, A, Fernandez-Arquero, M, Maluenda, C, Polanco, I, de la Concha, E G, Urcelay, E, Nunez, C Tags: Letter to JMG Source Type: journals

[Short report] A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortiumEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study also found that the same allele of the SNP significantly reduced bone density at both the hip and spine (p<0.01), suggesting the potential mechanism of the gene in hand OA might be via effects on subchondral bone. The authors' findings provide a potential new insight into genetic mechanisms in the development of hand OA. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Zhai, G, van Meurs, J B J, Livshits, G, Meulenbelt, I, Valdes, A M, Soranzo, N, Hart, D, Zhang, F, Kato, B S, Richards, J B, Williams, F M K, Inouye, M, Kloppenburg, M, Deloukas, P, Slagboom, E, Uitterlinden, A, Spector, T D Tags: Short report Source Type: journals

[Original articles] Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: This study is the first to demonstrate clinical differences between patients with TGFBR1 and TGFBR2 mutations. These differences are important for the clinical management and outcome of vascular diseases in these patients. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Tran-Fadulu, V, Pannu, H, Kim, D H, Vick, G W, Lonsford, C M, Lafont, A L, Boccalandro, C, Smart, S, Peterson, K L, Hain, J Z., Willing, M C, Coselli, J S, LeMaire, S A, Ahn, C, Byers, P H, Milewicz, D M Tags: Original articles Source Type: journals

[Original articles] Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The data do not provide any evidence for phenotype–genotype correlations between size of the deletions or type of mutations and severity of clinical features. Therefore, the authors confirm the EHMT1 gene to be the major determinant of the 9qSTDS phenotype. Interestingly, five of six patients who had reached adulthood had developed severe psychiatric pathology, which may indicate that EHMT1 haploinsufficiency is associated with neurodegeneration in addition to neurodevelopmental defect. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Kleefstra, T, van Zelst-Stams, W A, Nillesen, W M, Cormier-Daire, V, Houge, G, Foulds, N, van Dooren, M, Willemsen, M H, Pfundt, R, Turner, A, Wilson, M, McGaughran, J, Rauch, A, Zenker, M, Adam, M P, Innes, M, Davies, C, Lopez, A G.-M., Casalone, R, Webe Tags: Original articles Source Type: journals

[Original articles] Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Annual surveillance, by transvaginal ultrasound scanning and serum CA125 measurement, in women at increased familial risk of ovarian cancer is ineffective in detecting tumours at a sufficiently early stage to influence substantially survival in BRCA1/2 carriers. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Evans, D G, Gaarenstroom, K N, Stirling, D, Shenton, A, Maehle, L, Dorum, A, Steel, M, Lalloo, F, Apold, J, Porteous, M E, Vasen, H F A, van Asperen, C J, Moller, P Tags: Original articles Source Type: journals

[Original articles] Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosomeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study reports that such position effect can indeed be demonstrated by analysis of breakpoint regions in somatic cells of POF patients and by the finding that CR1 has a highly heterochromatic organisation, very different from that of the euchromatic autosomal regions involved in the rearrangements. The chromatin organisation of the POF CR1 is likely to be responsible for the epigenetic modifications observed in POF patients. The characteristics of CR1 and its downregulation in oocytes may very well explain its role in POF and the frequency of the POF phenotype in chromosomal rearrangements involving Xq. This study also...
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: Rizzolio, F, Pramparo, T, Sala, C, Zuffardi, O, De Santis, L, Rabellotti, E, Calzi, F, Fusi, F, Bellazzi, R, Toniolo, D Tags: Original articles Source Type: journals

[Review] Fragile X syndrome: from molecular genetics to therapyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Fragile X syndrome, the main cause of inherited mental retardation, is caused by transcriptional silencing of the fragile X mental retardation gene, FMR1. Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism. The core aim of this review is to summarise two decades of molecular research leading to the characterisation of cellular and molecular pathways involved in the pathology of this disease and as a consequence to the identification of two new promising targets for rational therapy of fragile X syndrome, namely the group 1 metabotrope g...
Source: Journal of Medical Genetics - August 31, 2009 Category: Genetics & Stem Cells Authors: D'Hulst, C, Kooy, R F Tags: Review Source Type: journals

[PostScript] CorrectionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - July 30, 2009 Category: Genetics & Stem Cells Tags: PostScript Source Type: journals

[PostScript] "New microdeletion syndromes: complex, but no new paradigms"Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - July 30, 2009 Category: Genetics & Stem Cells Authors: Ledbetter, D H Tags: PostScript Source Type: journals

[Mutation report] Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich regionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: 13 novel mutations in NLRP7 were identified. We confirm that mutations in NLRP7 affect female but not male reproduction, and provide evidence that transcript variant 2 of NLRP7 is the important isoform in this condition. The mutation clustering seen confirms that the LRR is critical for normal functioning of NLRP7. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - July 30, 2009 Category: Genetics & Stem Cells Authors: Wang, C M, Dixon, P H, Decordova, S, Hodges, M D, Sebire, N J, Ozalp, S, Fallahian, M, Sensi, A, Ashrafi, F, Repiska, V, Zhao, J, Xiang, Y, Savage, P M, Seckl, M J, Fisher, R A Tags: Genetic screening / counselling, Reproductive medicine, Epidemiology Mutation report Source Type: journals

[Letters to JMG] Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseasesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Our findings suggest that SLC35D1 loss-of-function mutations result consistently in SBD and are exclusive to SBD. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - July 30, 2009 Category: Genetics & Stem Cells Authors: Furuichi, T, Kayserili, H, Hiraoka, S, Nishimura, G, Ohashi, H, Alanay, Y, Lerena, J C, Aslanger, A D, Koseki, H, Cohn, D H, Superti-Furga, A, Unger, S, Ikegawa, S Tags: Molecular genetics Letters to JMG Source Type: journals