2. Academic Validation
  3. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

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.
Michael Gonzalez 1,  Heather McLaughlin,  Henry Houlden,  Min Guo,  Liu Yo-Tsen,  Marios Hadjivassilious,  Fiorella Speziani,  Xiang-Lei Yang,  Anthony Antonellis,  Mary M Reilly,  Stephan Züchner,  Inherited Neuropathy Consortium
Affiliations

Affiliation

  • 1 Dr John T McDonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, , Miami, Florida, USA.
PMID: 23729695 DOI: 10.1136/jnnp-2013-305049
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.

Keywords

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

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