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

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.

SUBMITTER: Antonellis A

PROVIDER: S-EPMC1180282 | biostudies-literature | 2003 May

REPOSITORIES: biostudies-literature

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

Antonellis Anthony A Ellsworth Rachel E RE Sambuughin Nyamkhishig N Puls Imke I Abel Annette A Lee-Lin Shih-Queen SQ Jordanova Albena A Kremensky Ivo I Christodoulou Kyproula K Middleton Lefkos T LT Sivakumar Kumaraswamy K Ionasescu Victor V Funalot Benoit B Vance Jeffery M JM Goldfarb Lev G LG Fischbeck Kenneth H KH Green Eric D ED

American journal of human genetics 20030410 5

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 ...[more]

PMID: 12690580

Dataset Information

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

Publications

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

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