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.
UR - https://www.scopus.com/pages/publications/0038067742
U2 - 10.1086/375039
DO - 10.1086/375039
M3 - Article
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 -