Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V

  • Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039.
Anthony Antonellis  1 ,  Rachel E Ellsworth ,  Nyamkhishig Sambuughin ,  Imke Puls ,  Annette Abel ,  Shih-Queen Lee-Lin ,  Albena Jordanova ,  Ivo Kremensky ,  Kyproula Christodoulou ,  Lefkos T Middleton ,  Kumaraswamy Sivakumar ,  Victor Ionasescu ,  Benoit Funalot ,  Jeffery M Vance ,  Lev G Goldfarb ,  Kenneth H Fischbeck ,  Eric D Green
Affiliations
  • 1. Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
PMID: 12690580 DOI: 10.1086/375039
Abstract

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.