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

Anthony Antonellis, 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

Research output: Contribution to journalArticle

395 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1293-1299
Number of pages7
JournalAmerican journal of human genetics
Volume72
Issue number5
DOIs
StatePublished - May 1 2003

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S. Q., Jordanova, A., Kremensky, I., Christodoulou, K., Middleton, L. T., Sivakumar, K., Ionasescu, V., Funalot, B., Vance, J. M., Goldfarb, L. G., Fischbeck, K. H., & Green, E. D. (2003). Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. American journal of human genetics, 72(5), 1293-1299. https://doi.org/10.1086/375039