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

Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosomes, Human, Pair 7 / genetics
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant
  • Glycine-tRNA Ligase / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Muscular Atrophy, Spinal / classification
  • Muscular Atrophy, Spinal / genetics*
  • Mutation, Missense*
  • Pedigree
  • Physical Chromosome Mapping
  • Sequence Homology, Amino Acid


  • Glycine-tRNA Ligase

Associated data

  • GENBANK/AC091658
  • GENBANK/AC091711
  • GENBANK/AC091720
  • GENBANK/AC091755
  • GENBANK/AC092009
  • GENBANK/AC092081
  • GENBANK/AC092083
  • GENBANK/AC092088
  • GENBANK/AC098806
  • GENBANK/AC099322
  • GENBANK/BE669219
  • GENBANK/BE680980
  • GENBANK/BI818038
  • GENBANK/BJ031186
  • GENBANK/BM538632
  • GENBANK/BQ730838
  • GENBANK/Q04451