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

Michael Gonzalez, Heather McLaughlin, Henry Houlden, Min Guo, Yo Tsen Liu, Marios Hadjivassilious, Fiorella Speziani, Xiang Lei Yang, Anthony Antonellis, Mary M. Reilly, Stephan Züchner

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69 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1247-1249
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume84
Issue number11
DOIs
StatePublished - Nov 2013

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ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health

Cite this

Gonzalez, M., McLaughlin, H., Houlden, H., Guo, M., Liu, Y. T., Hadjivassilious, M., Speziani, F., Yang, X. L., Antonellis, A., Reilly, M. M., & Züchner, S. (2013). Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. Journal of Neurology, Neurosurgery and Psychiatry, 84(11), 1247-1249. https://doi.org/10.1136/jnnp-2013-305049