The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy

J Hum Genet. 2009 May;54(5):310-2. doi: 10.1038/jhg.2009.25. Epub 2009 Mar 27.


Charcot-Marie-Tooth neuropathy (CMT) is an extremely common but heterogeneous inherited neuropathy. It has been classified into two forms: demyelinating and axonal. The dominant axonal form, CMT2, has been further subdivided through linkage study and 15 loci and 10 genes have been reported. For the glycyl-tRNA synthetase (GARS) gene, a CMT2-causing gene, 10 mutations have been reported to date. We studied the GARS in 89 Japanese patients with axonal CMT and detected a novel heterozygous Pro244Leu (c.893C>T) mutation in a patient showing adolescent onset and early upper limb involvement. Results of our study indicate that GARS mutation is a rare cause of CMT2 among Japanese patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Charcot-Marie-Tooth Disease / enzymology*
  • Charcot-Marie-Tooth Disease / genetics*
  • DNA Mutational Analysis
  • Glycine-tRNA Ligase / genetics*
  • Humans
  • Japan
  • Molecular Sequence Data
  • Mutation / genetics*


  • Glycine-tRNA Ligase