title: 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.
authors.affiliation: Section of Neurology, Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, 604B, Houston, TX, 77030, USA.
authors.forename: Davut
authors.initials: D
authors.lastname: Pehlivan
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Coban Akdemir
authors.forename: Ender
authors.initials: E
authors.lastname: Karaca
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Bayram
authors.forename: Shalini
authors.initials: S
authors.lastname: Jhangiani
authors.forename: Edibe Pembegul
authors.initials: EP
authors.lastname: Yildiz
authors.forename: Donna
authors.initials: D
authors.lastname: Muzny
authors.forename: Kayihan
authors.initials: K
authors.lastname: Uluc
authors.forename: Richard A
authors.initials: RA
authors.lastname: Gibbs
authors.forename: Nursel
authors.initials: N
authors.lastname: Elcioglu
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.forename: Tamar
authors.initials: T
authors.lastname: Harel
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D059472:Exome; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D014826:Vocal Cord Paralysis / Q000235:genetics*
chemical_list: C400022:NARF protein, human; D009687:Nuclear Proteins