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

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

Affiliation

  • 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.

Figures