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

Published

Journal Article

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.

Full Text

Cited Authors

  • Antonellis, A; Ellsworth, RE; Sambuughin, N; Puls, I; Abel, A; Lee-Lin, S-Q; Jordanova, A; Kremensky, I; Christodoulou, K; Middleton, LT; Sivakumar, K; Ionasescu, V; Funalot, B; Vance, JM; Goldfarb, LG; Fischbeck, KH; Green, ED

Published Date

  • May 2003

Published In

Volume / Issue

  • 72 / 5

Start / End Page

  • 1293 - 1299

PubMed ID

  • 12690580

Pubmed Central ID

  • 12690580

Electronic International Standard Serial Number (EISSN)

  • 1537-6605

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1086/375039

Language

  • eng