jmg.bmj

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome

Background Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon ...
jmg.bmj

MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect

The microphthalmia-associated transcription factor (MITF) is a key regulator of melanocyte development, function and survival. The p.E318K variant affects SUMOylation at K316 and has been shown to ...
jmg.bmj

Somatic point mutations occurring early in development: a monozygotic twin study

1 Departments of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montreal, Quebec, Canada 2 Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, ...
jmg.bmj

Genetic aetiology of early infant deaths in a neonatal intensive care unit

Correspondence to Professor Wenhao Zhou, Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China; zhouwenhao{at}fudan.edu.cn Background Congenital anomalies are the ...
jmg.bmj

Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research

12 Cancer Research UK Familial Gastric Cancer Study, University Department of Oncology, Addenbrooke's Hospital, Cambridge, UK 13 Cancer Research UK Cambridge Research Institute and Department of ...
jmg.bmj

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands 2 Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the ...
jmg.bmj

De novo mtDNA point mutations are common and have a low recurrence risk

4 Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK 5 Research School for Cardiovascular Diseases in ...
jmg.bmj

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Background The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos ...
jmg.bmj

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi ...
jmg.bmj

Autism traits in the RASopathies

1 Department of Psychiatry, University of California San Francisco, San Francisco, California, USA 2 Institute for Human Genetics, University of California San Francisco, San Francisco, California, ...
jmg.bmj

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events

3 Division of Neonatology, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee, USA 4 Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, ...
jmg.bmj

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes

Correspondence to Professor Miikka Vikkula, Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels 1348, Belgium; miikka.vikkula{at}uclouvain.be Background Oral clefts, that is, ...