Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A,
Ellsworth RE,
Sambuughin N,
Puls I,
Abel A,
Lee-Lin SQ,
Jordanova A,
Kremensky I,
Christodoulou K,
Middleton LT,
Sivakumar K,
Ionasescu V,
Funalot B,
Vance JM,
Goldfarb LG,
Fischbeck KH,
Green ED.
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromosome 7p. Here, we report the identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V. This is the first example of an aminoacyl tRNA synthetase being implicated in a human genetic disease, which makes genes that encode these enzymes relevant candidates for other inherited neuropathies and motor neuron diseases.
PMID: 12690580 [PubMed - indexed for MEDLINE]
PMCID: PMC1180282