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

Davut Pehlivan; Zeynep Coban Akdemir; Ender Karaca; Yavuz Bayram; Shalini Jhangiani; Edibe Pembegul Yildiz; Donna Muzny; Kayihan Uluc; Richard A. Gibbs; Center for Mendelian Genomics Baylor-Hopkins Center for Mendelian Genomics; Nursel Elcioglu; James R. Lupski; Tamar Harel

doi:10.1007/s00439-015-1548-3

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

Davut Pehlivan, Zeynep Coban Akdemir, Ender Karaca, Yavuz Bayram, Shalini Jhangiani, Edibe Pembegul Yildiz, Donna Muzny, Kayihan Uluc, Richard A. Gibbs, Center for Mendelian Genomics Baylor-Hopkins Center for Mendelian Genomics, Nursel Elcioglu, James R. Lupski, Tamar Harel

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

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.

Original language	English
Pages (from-to)	671-673
Number of pages	3
Journal	Human Genetics
Volume	134
Issue number	6
DOIs	https://doi.org/10.1007/s00439-015-1548-3
State	Published - 1 Jun 2015
Externally published	Yes

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Pehlivan, D., Coban Akdemir, Z., Karaca, E., Bayram, Y., Jhangiani, S., Yildiz, E. P., Muzny, D., Uluc, K., Gibbs, R. A., Baylor-Hopkins Center for Mendelian Genomics, C. F. M. G., Elcioglu, N., Lupski, J. R., & Harel, T. (2015). Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Human Genetics, 134(6), 671-673. https://doi.org/10.1007/s00439-015-1548-3

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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.",

author = "Davut Pehlivan and {Coban Akdemir}, Zeynep and Ender Karaca and Yavuz Bayram and Shalini Jhangiani and Yildiz, {Edibe Pembegul} and Donna Muzny and Kayihan Uluc and Gibbs, {Richard A.} and {Baylor-Hopkins Center for Mendelian Genomics}, {Center for Mendelian Genomics} and Nursel Elcioglu and Lupski, {James R.} and Tamar Harel",

note = "Publisher Copyright: {\textcopyright} 2015, Springer-Verlag Berlin Heidelberg.",

year = "2015",

month = jun,

day = "1",

doi = "10.1007/s00439-015-1548-3",

language = "English",

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Pehlivan, D, Coban Akdemir, Z, Karaca, E, Bayram, Y, Jhangiani, S, Yildiz, EP, Muzny, D, Uluc, K, Gibbs, RA, Baylor-Hopkins Center for Mendelian Genomics, CFMG, Elcioglu, N, Lupski, JR & Harel, T 2015, 'Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis', Human Genetics, vol. 134, no. 6, pp. 671-673. https://doi.org/10.1007/s00439-015-1548-3

TY - JOUR

T1 - Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

AU - Pehlivan, Davut

AU - Coban Akdemir, Zeynep

AU - Karaca, Ender

AU - Bayram, Yavuz

AU - Jhangiani, Shalini

AU - Yildiz, Edibe Pembegul

AU - Muzny, Donna

AU - Uluc, Kayihan

AU - Gibbs, Richard A.

AU - Baylor-Hopkins Center for Mendelian Genomics, Center for Mendelian Genomics

AU - Elcioglu, Nursel

AU - Lupski, James R.

AU - Harel, Tamar

PY - 2015/6/1

Y1 - 2015/6/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84937764477&partnerID=8YFLogxK

U2 - 10.1007/s00439-015-1548-3

DO - 10.1007/s00439-015-1548-3

M3 - Article

C2 - 25893792

AN - SCOPUS:84937764477

SN - 0340-6717

VL - 134

SP - 671

EP - 673

JO - Human Genetics

JF - Human Genetics

IS - 6

ER -

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

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