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

doi:10.1086/375039

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Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

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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, …

American journal of human genetics, Vol.72(5), pp.1293-1299

2003-05

DOI: https://doi.org/10.1086/375039

PMCID: PMC1180282

PMID: 12690580

Abstract

Report

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.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 2 Chemistry; 2.170 Nucleic Acids Chemistry; 2.170.185 Ribosome
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V
Creators: Anthony Antonellis - Genome Technology Branch, National Human Genome Research Institute
Rachel E Ellsworth - Genome Technology Branch, National Human Genome Research Institute
Nyamkhishig Sambuughin - Genome Technology Branch, National Human Genome Research Institute
Imke Puls - Genome Technology Branch, National Human Genome Research Institute
Annette Abel - Genome Technology Branch, National Human Genome Research Institute
Shih-Queen Lee-Lin - Genome Technology Branch, National Human Genome Research Institute
Albena Jordanova - Genome Technology Branch, National Human Genome Research Institute
Ivo Kremensky - Genome Technology Branch, National Human Genome Research Institute
Kyproula Christodoulou - Genome Technology Branch, National Human Genome Research Institute
Lefkos T Middleton - Genome Technology Branch, National Human Genome Research Institute
Kumaraswamy Sivakumar - Genome Technology Branch, National Human Genome Research Institute
Victor Ionasescu - Genome Technology Branch, National Human Genome Research Institute
Benoit Funalot - Genome Technology Branch, National Human Genome Research Institute
Jeffery M Vance - Genome Technology Branch, National Human Genome Research Institute
Lev G Goldfarb - Genome Technology Branch, National Human Genome Research Institute
Kenneth H Fischbeck - Genome Technology Branch, National Human Genome Research Institute
Eric D Green - Genome Technology Branch, National Human Genome Research Institute
Publication Details: American journal of human genetics, Vol.72(5), pp.1293-1299
Publisher: The American Society of Human Genetics
Academic Unit: Miller School of Medicine; John P. Hussman Institute for Human Genomics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 12690580
PMCID: PMC1180282
Record Identifier: 991031559259302976