Literature DB >> 25893792

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

Davut Pehlivan1, 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.   

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.

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Year:  2015        PMID： 25893792      PMCID： PMC4426057          DOI： 10.1007/s00439-015-1548-3

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  6 in total

1.  The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.

Authors:  Elena Kudryashova; Arie Struyk; Ekaterina Mokhonova; Stephen C Cannon; Melissa J Spencer
Journal:  Hum Mol Genet       Date:  2011-07-20       Impact factor: 6.150

Review 2.  Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease.

Authors:  Loutfi S Aboussouan; Richard A Lewis; Michael E Shy
Journal:  Lung       Date:  2007-02-09       Impact factor: 2.584

3.  Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.

Authors:  Emil Ylikallio; Rosanna Pöyhönen; Magdalena Zimon; Els De Vriendt; Taru Hilander; Anders Paetau; Albena Jordanova; Tuula Lönnqvist; Henna Tyynismaa
Journal:  Hum Mol Genet       Date:  2013-04-04       Impact factor: 6.150

Review 4.  Charcot-Marie-Tooth disease and pathways to molecular based therapies.

Authors:  T Harel; J R Lupski
Journal:  Clin Genet       Date:  2014-05-09       Impact factor: 4.438

5.  Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Authors:  James R Lupski; Claudia Gonzaga-Jauregui; Yaping Yang; Matthew N Bainbridge; Shalini Jhangiani; Christian J Buhay; Christie L Kovar; Min Wang; Alicia C Hawes; Jeffrey G Reid; Christine Eng; Donna M Muzny; Richard A Gibbs
Journal:  Genome Med       Date:  2013-06-27       Impact factor: 11.117

6.  Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.

Authors:  Vincent Timmerman; Alleene V Strickland; Stephan Züchner
Journal:  Genes (Basel)       Date:  2014-01-22       Impact factor: 4.096
  6 in total
  8 in total

1.  Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Authors:  Claudia Gonzaga-Jauregui; Tamar Harel; Tomasz Gambin; Maria Kousi; Laurie B Griffin; Ludmila Francescatto; Burcak Ozes; Ender Karaca; Shalini N Jhangiani; Matthew N Bainbridge; Kim S Lawson; Davut Pehlivan; Yuji Okamoto; Marjorie Withers; Pedro Mancias; Anne Slavotinek; Pamela J Reitnauer; Meryem T Goksungur; Michael Shy; Thomas O Crawford; Michel Koenig; Jason Willer; Brittany N Flores; Igor Pediaditrakis; Onder Us; Wojciech Wiszniewski; Yesim Parman; Anthony Antonellis; Donna M Muzny; Nicholas Katsanis; Esra Battaloglu; Eric Boerwinkle; Richard A Gibbs; James R Lupski
Journal:  Cell Rep       Date:  2015-08-06       Impact factor: 9.423

2.  Exploring the Roles of CREBRF and TRIM2 in the Regulation of Angiogenesis by High-Density Lipoproteins.

Authors:  Nathan K P Wong; Helena Cheung; Emma L Solly; Laura Z Vanags; William Ritchie; Stephen J Nicholls; Martin K C Ng; Christina A Bursill; Joanne T M Tan
Journal:  Int J Mol Sci       Date:  2018-06-28       Impact factor: 5.923

3.  TRIM2, a novel member of the antiviral family, limits New World arenavirus entry.

Authors:  Nicolas Sarute; Nouhou Ibrahim; Bani Medegan Fagla; Madakasira Lavanya; Christian Cuevas; Spyridon Stavrou; Guliz Otkiran-Clare; Henna Tyynismaa; Jorge Henao-Mejia; Susan R Ross
Journal:  PLoS Biol       Date:  2019-02-06       Impact factor: 8.029

Review 4.  Expression and Role of TRIM2 in Human Diseases.

Authors:  Maolin Xiao; Jianjun Li; Qingyuan Liu; Xiangbiao He; Zongke Yang; Delin Wang
Journal:  Biomed Res Int       Date:  2022-08-23       Impact factor: 3.246

5.  ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Authors:  Celeste Montecchiani; Lucia Pedace; Temistocle Lo Giudice; Antonella Casella; Marzia Mearini; Fabrizio Gaudiello; José L Pedroso; Chiara Terracciano; Carlo Caltagirone; Roberto Massa; Peter H St George-Hyslop; Orlando G P Barsottini; Toshitaka Kawarai; Antonio Orlacchio
Journal:  Brain       Date:  2015-11-10       Impact factor: 13.501

Review 6.  Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.

Authors:  Alberto Andrea Zambon; Maria Grazia Natali Sora; Giovanna Cantarella; Federica Cerri; Angelo Quattrini; Giancarlo Comi; Stefano Carlo Previtali; Alessandra Bolino
Journal:  Neuromuscul Disord       Date:  2017-01-16       Impact factor: 4.296

Review 7.  E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.

Authors:  Léa Lescouzères; Pascale Bomont
Journal:  Front Physiol       Date:  2020-10-22       Impact factor: 4.566

8.  Exploring Neuronal Vulnerability to Head Trauma Using a Whole Exome Approach.

Authors:  Omar Ibrahim; Heidi G Sutherland; Neven Maksemous; Robert Smith; Larisa M Haupt; Lyn R Griffiths
Journal:  J Neurotrauma       Date:  2020-05-04       Impact factor: 5.269
  8 in total

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