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Neuromuscular
Short report
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
  1. Michael Gonzalez1,
  2. Heather McLaughlin2,
  3. Henry Houlden3,
  4. Min Guo4,
  5. Liu Yo-Tsen3,
  6. Marios Hadjivassilious5,
  7. Fiorella Speziani1,
  8. Xiang-Lei Yang6,
  9. Anthony Antonellis2,7,
  10. Mary M Reilly3,
  11. Stephan Züchner1,
  12. Inherited Neuropathy Consortium (INC)
  1. 1Dr 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
  2. 2Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA
  3. 3Department of Molecular Neurosciences, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK
  4. 4Department of Cancer Biology, The Scripps Research Institute, Jupiter, Florida, USA
  5. 5Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, UK
  6. 6Departments of Chemical Physiology and Molecular Biology, The Scripps Research Institute, La Jolla, California, USA
  7. 7Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, USA
  1. Correspondence to Dr Stephan Züchner, Dr JT Macdonald Foundation Department for Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine Biomedical Research Building (BRB) Room 523, LC: M-860, 1501 NW 10th Avenue, Miami, FL 33136, USA; szuchner{at}med.miami.edu

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

https://doi.org/10.1136/jnnp-2013-305049

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