Title | Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. |
Publication Type | Journal Article |
Year of Publication | 2015 |
Authors | Pehlivan, 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 | Baylor-Hopkins Center for Mendelian Genomics |
Journal | Hum Genet |
Volume | 134 |
Issue | 6 |
Pagination | 671-3 |
Date Published | 2015 Jun |
ISSN | 1432-1203 |
Keywords | Adult, 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. |
DOI | 10.1007/s00439-015-1548-3 |
Alternate Journal | Hum Genet |
PubMed ID | 25893792 |
PubMed Central ID | PMC4426057 |
Grant List | T32 GM007526 / GM / NIGMS NIH HHS / United States U54 HG006542 / HG / NHGRI NIH HHS / United States NIH/NIGMS NIH T32 GM07526 / / PHS HHS / United States U54HG006542 / HG / NHGRI NIH HHS / United States |
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
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