Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1247-9. doi: 10.1136/jnnp-2013-305049. Epub 2013 Jun 1.


Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous condition with >50 genes now being identified. Thanks to new technological developments, namely, exome sequencing, the ability to identify additional rare genes in CMT has been drastically improved. Here we present data suggesting that MARS is a very rare novel cause of late-onset CMT2. This is supported by strong functional and evolutionary evidence, yet the absence of additional unrelated cases warrant future studies to substantiate this conclusion.

Keywords: Charcot-Marie-Tooth disease; Exome sequencing; tRNA synthases.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged, 80 and over
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Aberrations
  • Chromosomes, Human, X / genetics
  • DNA Mutational Analysis
  • Exome / genetics*
  • Genetic Variation / genetics*
  • Humans
  • Male
  • Methionine-tRNA Ligase / genetics*
  • Pedigree
  • Penetrance
  • Phenotype
  • Sequence Analysis, DNA*
  • Sex Chromosome Aberrations


  • Methionine-tRNA Ligase