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

SUBMITTER: Pehlivan D

PROVIDER: S-EPMC4426057 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature

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

Pehlivan Davut D Coban Akdemir Zeynep Z Karaca Ender E Bayram Yavuz Y Jhangiani Shalini S Yildiz Edibe Pembegul EP Muzny Donna D Uluc Kayihan K Gibbs Richard A RA Elcioglu Nursel N Lupski James R JR Harel Tamar T

Human genetics 20150417 6

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 p ...[more]

PMID: 25893792

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Project description:ObjectivesTo determine the decannulation rate (DR) and revision surgery rate after surgery for bilateral vocal fold paralysis (BVFP).Data sourcesFive databases (MEDLINE, PubMed, Embase, Web of Science, Scopus) were searched for the period 1908-2020.MethodsThe systematic literature review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Data were pooled using a random-mixed-effects model. Randomized controlled trials and non-randomized studies (case-control, cohort, and case series) were included to assess DR and revision surgery rate after different surgical techniques for treatment of BVFP.ResultsThe search yielded 857 publications, of which 102 with 2802 patients were included. DR after different types of surgery was: arytenoid abduction (DR 0.93, 95%-confidence interval [CI], 0.86-0.97), endolaryngeal arytenoidectomy (DR 0.92, 95%-CI, 0.86-0.96), external arytenoidectomy (DR 0.94; 95%-CI, 0.71-0.99), external arytenoidectomy and lateralisation (DR 0.87; 95%-CI, 0.73-0.94), laterofixation (DR 0.95; 95%-CI, 0.91-0.97), posterior cordectomy (DR 0.97, 95%-CI, 0.94-0.99), posterior cordectomy and arytenoidectomy (DR 0.98, 95%-CI, 0.93-0.99), posterior cordectomy and subtotal arytenoidectomy (DR 0.98, 95%-CI, 0.88-1.00), posterior cordotomy (DR 0.96, 95%-CI, 0.84-0.99), reinnervation (0.69, 95%-CI, 0.12-0.97), subtotal arytenoidectomy (DR 1.00, 95%-CI, 0.00-1.00) and transverse cordotomy (DR 1.0, 95%-CI, 0.00-1.00). No significant difference between subgroups for DR could be found (Q = 15.67, df = 11, p = 0.1540). The between-study heterogeneity was low (τ2 = 2.2627; τ = 1.5042; I2 = 0.0%). Studies were at high risk of bias.ConclusionBLVP is a rare disease and the study quality is insufficient. The existing studies suggest a publication bias and the literature review revealed that there is a lack of prospective controlled studies. There is a lack of standardized measures that takes into account both speech quality and respiratory function and allows adequate comparison of surgical methods.

Dataset Information

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

Publications

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

Similar Datasets

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