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

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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
Pages (from-to)1293-1299
Number of pages7
JournalAmerican Journal of Human Genetics
Volume72
Issue number5
DOIs
StatePublished - May 1 2003
Externally publishedYes

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Glycine-tRNA Ligase
Charcot-Marie-Tooth Disease
Mutation
Genes
Physical Exertion
Amino Acyl-tRNA Synthetases
Motor Neuron Disease
Inborn Genetic Diseases
Medical Genetics
Human Chromosomes
Missense Mutation
Enzymes
Neuronopathy, Distal Hereditary Motor, Type V

ASJC Scopus subject areas

  • Genetics

Cite this

Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S. Q., ... 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

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. / Antonellis, Anthony; Ellsworth, Rachel E.; Sambuughin, Nyamkhishig; Puls, Imke; Abel, Annette; Lee-Lin, Shih Queen; Jordanova, Albena; Kremensky, Ivo; Christodoulou, Kyproula; Middleton, Lefkos T.; Sivakumar, Kumaraswamy; Ionasescu, Victor; Funalot, Benoit; Vance, Jeffery M; Goldfarb, Lev G.; Fischbeck, Kenneth H.; Green, Eric D.

In: American Journal of Human Genetics, Vol. 72, No. 5, 01.05.2003, p. 1293-1299.

Research output: Contribution to journalArticle

Antonellis, A, Ellsworth, RE, Sambuughin, N, Puls, I, Abel, A, Lee-Lin, SQ, Jordanova, A, Kremensky, I, Christodoulou, K, Middleton, LT, Sivakumar, K, Ionasescu, V, Funalot, B, Vance, JM, Goldfarb, LG, Fischbeck, KH & Green, ED 2003, 'Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V', American Journal of Human Genetics, vol. 72, no. 5, pp. 1293-1299. https://doi.org/10.1086/375039
Antonellis, Anthony ; Ellsworth, Rachel E. ; Sambuughin, Nyamkhishig ; Puls, Imke ; Abel, Annette ; Lee-Lin, Shih Queen ; Jordanova, Albena ; Kremensky, Ivo ; Christodoulou, Kyproula ; Middleton, Lefkos T. ; Sivakumar, Kumaraswamy ; Ionasescu, Victor ; Funalot, Benoit ; Vance, Jeffery M ; Goldfarb, Lev G. ; Fischbeck, Kenneth H. ; Green, Eric D. / Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. In: American Journal of Human Genetics. 2003 ; Vol. 72, No. 5. pp. 1293-1299.
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