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

Pehlivan, Davut; Akdemir, Zeynep; Karaca, Ender; Bayram, Yavuz; Jhangiani, Shalini; Yildiz, EDİBE; Muzny, Donna; ULUÇ, KAYIHAN; Gibbs, Richard; Elcioglu, Nursel; Lupski, James; Harel, Tamar

doi:10.1007/s00439-015-1548-3

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., ...Daha Fazla

Human genetics, cilt.134, sa.6, ss.671-3, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 134 Sayı: 6
Basım Tarihi: 2015
Doi Numarası: 10.1007/s00439-015-1548-3
Dergi Adı: Human genetics
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.671-3
İstanbul Üniversitesi Adresli: Hayır

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.