Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. Issue 11 (1st June 2013)

• Record Type: Journal Article
• Authors: Gonzalez, Michael; McLaughlin, Heather; Houlden, Henry; Guo, Min; Yo-Tsen, Liu; Hadjivassilious, Marios; Speziani, Fiorella; Yang, Xiang-Lei; Antonellis, Anthony; Reilly, Mary M; Züchner, Stephan
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 84:Issue 11(2013)
• Page Start: 1247
• Page End: 1249
• Publication Date: 2013-06-01
• Subjects: Charcot-Marie-Tooth disease -- Exome sequencing -- tRNA synthases; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2013-305049
• Languages: English
• ISSNs: 0022-3050

Abstract

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.