Exome Sequencing Reveals Homozygous TRIM2 Mutation in a Patient with Early Onset CMT and Bilateral Vocal Cord Paralysis

Overview

Journal Hum Genet

Specialty Genetics

Date 2015 Apr 21

PMID 25893792

Citations 11

Authors

Davut Pehlivan

Zeynep Coban Akdemir

Ender Karaca

Yavuz Bayram

Shalini Jhangiani

Edibe Pembegul Yildiz

Donna Muzny

Kayihan Uluc

Richard A Gibbs

Nursel Elcioglu

James R Lupski

Tamar Harel

Affiliations

Soon will be listed here.

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.

Citing Articles

TRIM2: a double-edged sword preventing apoptosis.

Hollemann T FEBS J. 2024; 292(2):272-274.

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Divergent self-association properties of paralogous proteins TRIM2 and TRIM3 regulate their E3 ligase activity.

Esposito D, Dudley-Fraser J, Garza-Garcia A, Rittinger K Nat Commun. 2022; 13(1):7583.

PMID: 36481767 PMC: 9732051. DOI: 10.1038/s41467-022-35300-7.

Comparative structural analyses of the NHL domains from the human E3 ligase TRIM-NHL family.

Chaikuad A, Zhubi R, Tredup C, Knapp S IUCrJ. 2022; 9(Pt 6):720-727.

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Expression and Role of TRIM2 in Human Diseases.

Xiao M, Li J, Liu Q, He X, Yang Z, Wang D Biomed Res Int. 2022; 2022:9430509.

PMID: 36051486 PMC: 9427271. DOI: 10.1155/2022/9430509.

Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.

Schiavon C, Shadel G, Manor U Front Cell Dev Biol. 2021; 9:624823.

PMID: 33598463 PMC: 7882694. DOI: 10.3389/fcell.2021.624823.

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