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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 ...
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What can exome sequencing do for you?

3 Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Canada Correspondence to Dr Nada Jabado, Montreal Children's Hospital Research Institute, 4060 Ste Catherine ...
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FSIP2 plays a role in the acrosome development during spermiogenesis

Background Loss-of-function mutations in FSIP2 result in multiple morphological abnormalities of the flagella in humans and mice. Intriguingly, a recent study found that FSIP2 might regulate the ...
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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 ...
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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 ...