Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.

Pehlivan D., Akdemir Z. C., Karaca E., Bayram Y., Jhangiani S., Yildiz E., ...More

Human genetics, vol.134, no.6, pp.671-3, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 134 Issue: 6
  • Publication Date: 2015
  • Doi Number: 10.1007/s00439-015-1548-3
  • Journal Name: Human genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.671-3
  • Istanbul University Affiliated: No

Abstract

Charcot-Marie-Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was recently associated with early-onset neuropathy in a single patient. We report a TRIM2 homozygous missense mutation (c.2000A > C; p.D667A) in a patient with peripheral neuropathy and bilateral vocal cord paralysis, allowing for further delineation of the associated phenotypic spectrum.