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

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

490 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 language	English
Pages (from-to)	1293-1299
Number of pages	7
Journal	American Journal of Human Genetics
Volume	72
Issue number	5
DOIs	https://doi.org/10.1086/375039
State	Published - 1 May 2003
Externally published	Yes

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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

@article{8460f9de270d47feb32fea37e94145b0,

title = "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.",

author = "Anthony Antonellis and Ellsworth, {Rachel E.} and Nyamkhishig Sambuughin and Imke Puls and Annette Abel and Lee-Lin, {Shih Queen} and Albena Jordanova and Ivo Kremensky and Kyproula Christodoulou and Middleton, {Lefkos T.} and Kumaraswamy Sivakumar and Victor Ionasescu and Benoit Funalot and Vance, {Jeffery M.} and Goldfarb, {Lev G.} and Fischbeck, {Kenneth H.} and Green, {Eric D.}",

note = "Funding Information: We thank the members of the families for their participation in this study. We also thank: Larry Brody for providing screening populations, the Washington University Genome Sequencing Center for sequencing, Don Hadley for sample collection, Veneta Georgieva for family 3 pedigree data, Andy Baxevanis for protein modeling, and Robert Nussbaum and Francis Collins for critical review of the manuscript. This work was supported in part by grant NS 26630 (to J.M.V.). All studies performed herein were approved by the National Institute of Neurological Disorders and Stroke Institutional Review Board, with informed consent obtained from all subjects. ",

year = "2003",

month = may,

day = "1",

doi = "10.1086/375039",

language = "English",

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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

TY - JOUR

T1 - Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V

AU - Antonellis, Anthony

AU - Ellsworth, Rachel E.

AU - Sambuughin, Nyamkhishig

AU - Puls, Imke

AU - Abel, Annette

AU - Lee-Lin, Shih Queen

AU - Jordanova, Albena

AU - Kremensky, Ivo

AU - Christodoulou, Kyproula

AU - Middleton, Lefkos T.

AU - Sivakumar, Kumaraswamy

AU - Ionasescu, Victor

AU - Funalot, Benoit

AU - Vance, Jeffery M.

AU - Goldfarb, Lev G.

AU - Fischbeck, Kenneth H.

AU - Green, Eric D.

N1 - Funding Information: We thank the members of the families for their participation in this study. We also thank: Larry Brody for providing screening populations, the Washington University Genome Sequencing Center for sequencing, Don Hadley for sample collection, Veneta Georgieva for family 3 pedigree data, Andy Baxevanis for protein modeling, and Robert Nussbaum and Francis Collins for critical review of the manuscript. This work was supported in part by grant NS 26630 (to J.M.V.). All studies performed herein were approved by the National Institute of Neurological Disorders and Stroke Institutional Review Board, with informed consent obtained from all subjects.

PY - 2003/5/1

Y1 - 2003/5/1

N2 - 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.

AB - 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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DO - 10.1086/375039

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C2 - 12690580

AN - SCOPUS:0038067742

SN - 0002-9297

VL - 72

SP - 1293

EP - 1299

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -

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

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