Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Tarih
2015Yazar
Lupski, James R.
Karaca, Ender
Pehlivan, Davut
Elcioglu, Nursel
Harel, Tamar
Yildiz, Edibe
Akdemir, Zeynep Coban
Bayram, Yavuz
Jhangiani, Shalini
Muzny, Donna
ULUÇ, KAYIHAN
Gibbs, Richard A.
Üst veri
Tüm öğe kaydını gösterÖzet
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.
Koleksiyonlar
- Makale [92796]