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. P. , ...Daha Fazla

HUMAN GENETICS, cilt.134, ss.671-673, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 134 Konu: 6
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s00439-015-1548-3
  • Dergi Adı: HUMAN GENETICS
  • Sayfa Sayıları: ss.671-673

Özet

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.