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

TitleExome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Publication TypeJournal Article
Year of Publication2015
AuthorsPehlivan, D, Akdemir, ZCoban, Karaca, E, Bayram, Y, Jhangiani, S, Yildiz, EPembegul, Muzny, DM, Uluc, K, Gibbs, RA, Elcioglu, N, Lupski, JR, Harel, T
Corporate Authors
JournalHum Genet
Volume134
Issue6
Pagination671-3
Date Published2015 Jun
ISSN1432-1203
KeywordsAdult, Charcot-Marie-Tooth Disease, Exome, Female, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Infant, Newborn, Male, Mutation, Missense, Nuclear Proteins, Vocal Cord Paralysis
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.

DOI10.1007/s00439-015-1548-3
Alternate JournalHum. Genet.
PubMed ID25893792
PubMed Central IDPMC4426057
Grant ListNIH/NIGMS NIH T32 GM07526 / / PHS HHS / United States
T32 GM007526 / GM / NIGMS NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
U54HG006542 / HG / NHGRI NIH HHS / United States