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A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25
METHODS A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination. RESULTS ...
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Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
Background Parkinson’s disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple ...
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Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus
Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. Design: Observational and ...
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Chromosome 2 (2p16) abnormalities in Carney complex tumours
1 Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA 2 Surgical ...
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Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers
Background Testing cancers for mismatch repair deficiency (dMMR) by immunohistochemistry (IHC) is a quick and inexpensive means of triaging individuals for germline Lynch syndrome testing. The aim of ...
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Severe neonatal manifestations of Costello syndrome
Clinical Genetic Service, Department of Health, Hong Kong SAR, China Background: Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most ...
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Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints
1 Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Butenfeld 42, D-22529 Hamburg, Germany 2 Institute of Pathology, University Hospital Hamburg-Eppendorf, Martinistrasse 52, D-20251 ...
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CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease
1 Department of Medical Genetics, Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada 2 Department of Clinical Genetics, Centre for Human ...
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Bitter taste receptor gene polymorphisms are an important factor in the development of nicotine dependence in African Americans
ACT Center for Tobacco Treatment, Education and Research, Department of Otolaryngology and Communicative Sciences, University of Mississippi Medical Center, Jackson, Mississippi, USA Department of ...
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A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population
1 Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan 2 Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan 3 Department of Preventive ...
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Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
Purpose and scope The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic ...