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 L Zuchner

Research output: Contribution to journalArticle

63 Citations (Scopus)

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
Pages (from-to)1247-1249
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume84
Issue number11
DOIs
StatePublished - Nov 1 2013

Fingerprint

Methionine-tRNA Ligase
Exome
Charcot-Marie-Tooth Disease
Genes
Tooth
Onset
Sequencing
Gene
Teeth

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Surgery
  • Arts and Humanities (miscellaneous)

Cite this

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. / Gonzalez, Michael; McLaughlin, Heather; Houlden, Henry; Guo, Min; Liu, Yo Tsen; Hadjivassilious, Marios; Speziani, Fiorella; Yang, Xiang Lei; Antonellis, Anthony; Reilly, Mary M.; Zuchner, Stephan L.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 84, No. 11, 01.11.2013, p. 1247-1249.

Research output: Contribution to journalArticle

Gonzalez, M, McLaughlin, H, Houlden, H, Guo, M, Liu, YT, Hadjivassilious, M, Speziani, F, Yang, XL, Antonellis, A, Reilly, MM & Zuchner, SL 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, vol. 84, no. 11, pp. 1247-1249. https://doi.org/10.1136/jnnp-2013-305049
Gonzalez, Michael ; McLaughlin, Heather ; Houlden, Henry ; Guo, Min ; Liu, Yo Tsen ; Hadjivassilious, Marios ; Speziani, Fiorella ; Yang, Xiang Lei ; Antonellis, Anthony ; Reilly, Mary M. ; Zuchner, Stephan L. / Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. In: Journal of Neurology, Neurosurgery and Psychiatry. 2013 ; Vol. 84, No. 11. pp. 1247-1249.
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