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Mutations in hepatocyte nuclear factor-1β and their related phenotypes

Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK Correspondence to: Professor Andrew T Hattersley Diabetes and Vascular Medicine, Peninsula Medical School, Barrack ...
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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

1 Nuffield Department of Obstetrics and Gynaecology, University of Oxford, The Women's Centre, John Radcliffe Hospital, Oxford, UK 2 Department of Clinical Neuroscience, King's College Hospital, ...
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The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

2 St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK 3 Department of Dermatology, Great Ormond Street Hospital NHS Trust, London, UK 4 The Robin Eady National ...
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Is growth hormone treatment beneficial or harmful in Costello syndrome?

1 Regional Genetic Service and University Department of Medical Genetics, Central Manchester and Manchester Children’s University Hospitals NHS Trust, Manchester, UK 2 Department of Endocrinology, ...
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Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism

Neonatal haemochromatosis (NH) is a severe and newly recognised syndrome of uncertain aetiology, characterised by congenital cirrhosis or fulminant hepatitis and widespread tissue iron deposition. NH ...
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ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature

Background Pathogenic gain-of-function or dominant-negative effect missense variations in ACTB are associated with a neurodevelopmental disorder characterised by intellectual disability (ID), seizures ...
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Treatment switch in Fabry disease- a matter of dose?

Correspondence to Professor Eva Brand, Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology and Interdisciplinary Fabry Center Münster (IFAZ), University Hospital Münster, ...
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Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes

A structural aberration (SA) with secondary implications (SASIs) involving a cancer susceptibility gene is identified on chromosome microarray in approximately 0.6% tests performed on index cases.
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The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity

Correspondence to Dr Robert J Desnick, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue and 100th Street, Box 1498, New York, NY 10029, USA; ...
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Recontact and follow-up for individuals with germline pathogenic variants in hereditary breast and ovarian cancer susceptibility genes: a UK Cancer Genetics Group consensus meeting

Background Routine genetic testing for germline pathogenic variants (GPVs) in cancer susceptibility genes (CSGs) in individuals with suspected hereditary cancer risk, and subsequent cascade testing in ...
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UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK This is an open access article distributed in accordance with the ...
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Partial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation

Correspondence to: Dr A Sharp, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK; asharp{at}hgmp.mrc.ac.uk We report on a 4 year old girl with a de ...