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

Hum Genet. 2015 Jun;134(6):671-3. doi: 10.1007/s00439-015-1548-3. Epub 2015 Apr 17.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Exome
  • Female
  • High-Throughput Nucleotide Sequencing
  • Homozygote*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation, Missense*
  • Nuclear Proteins / genetics*
  • Vocal Cord Paralysis / genetics*

Substances

  • Narf protein, human
  • Nuclear Proteins