Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations

Ki W. Chung; Young S. Hyun; Hae J. Lee; Hwa Kyoung Jung; Heasoo Koo; Jeong H. Yoo; Sang Beom Kim; Chan I. Park; Han N. Kim; Byung Ok Choi

doi:10.1111/j.1529-8027.2011.00329.x

Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations

Ki W. Chung, Young S. Hyun, Hae J. Lee, Hwa Kyoung Jung, Heasoo Koo, Jeong H. Yoo, Sang Beom Kim, Chan I. Park, Han N. Kim, Byung Ok Choi

Department of Radiology

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

13 Scopus citations

Abstract

Various phenotypes have been reported in Charcot-Marie-Tooth (CMT) disease carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene. Here, we report two recessive intermediate Charcot-Marie-Tooth (RICMT) patients with GDAP1 missense mutations: a His256Arg homozygous mutation (c.767A>G + c.767A>G) and compound mutations of heterozygous Pro111His (c.332C>A) and Val219Gly (c.656T>G). The Pro111His and Val219Gly are unreported mutations, but the His256Arg was previously reported. In both patients, histopathological findings showed well-documented features of mixed demyelinating and axonal neuropathies, and nerve conduction velocities fall in the intermediate range. In addition, the patterns of fatty substitutions in leg magnetic resonance imaging (MRI) were different by the mutation sites within the same GDAP1 gene.

Original language	English
Pages (from-to)	143-146
Number of pages	4
Journal	Journal of the Peripheral Nervous System
Volume	16
Issue number	2
DOIs	https://doi.org/10.1111/j.1529-8027.2011.00329.x
State	Published - Jun 2011

Keywords

CMT disease
GDAP1
Mutation
Neuropathy
RI-CMT

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title = "Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations",

abstract = "Various phenotypes have been reported in Charcot-Marie-Tooth (CMT) disease carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene. Here, we report two recessive intermediate Charcot-Marie-Tooth (RICMT) patients with GDAP1 missense mutations: a His256Arg homozygous mutation (c.767A>G + c.767A>G) and compound mutations of heterozygous Pro111His (c.332C>A) and Val219Gly (c.656T>G). The Pro111His and Val219Gly are unreported mutations, but the His256Arg was previously reported. In both patients, histopathological findings showed well-documented features of mixed demyelinating and axonal neuropathies, and nerve conduction velocities fall in the intermediate range. In addition, the patterns of fatty substitutions in leg magnetic resonance imaging (MRI) were different by the mutation sites within the same GDAP1 gene.",

keywords = "CMT disease, GDAP1, Mutation, Neuropathy, RI-CMT",

author = "Chung, {Ki W.} and Hyun, {Young S.} and Lee, {Hae J.} and Jung, {Hwa Kyoung} and Heasoo Koo and Yoo, {Jeong H.} and Kim, {Sang Beom} and Park, {Chan I.} and Kim, {Han N.} and Choi, {Byung Ok}",

year = "2011",

month = jun,

doi = "10.1111/j.1529-8027.2011.00329.x",

language = "English",

volume = "16",

pages = "143--146",

journal = "Journal of the Peripheral Nervous System",

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AU - Chung, Ki W.

AU - Hyun, Young S.

AU - Lee, Hae J.

AU - Jung, Hwa Kyoung

AU - Koo, Heasoo

AU - Yoo, Jeong H.

AU - Kim, Sang Beom

AU - Park, Chan I.

AU - Kim, Han N.

AU - Choi, Byung Ok

PY - 2011/6

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N2 - Various phenotypes have been reported in Charcot-Marie-Tooth (CMT) disease carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene. Here, we report two recessive intermediate Charcot-Marie-Tooth (RICMT) patients with GDAP1 missense mutations: a His256Arg homozygous mutation (c.767A>G + c.767A>G) and compound mutations of heterozygous Pro111His (c.332C>A) and Val219Gly (c.656T>G). The Pro111His and Val219Gly are unreported mutations, but the His256Arg was previously reported. In both patients, histopathological findings showed well-documented features of mixed demyelinating and axonal neuropathies, and nerve conduction velocities fall in the intermediate range. In addition, the patterns of fatty substitutions in leg magnetic resonance imaging (MRI) were different by the mutation sites within the same GDAP1 gene.

AB - Various phenotypes have been reported in Charcot-Marie-Tooth (CMT) disease carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene. Here, we report two recessive intermediate Charcot-Marie-Tooth (RICMT) patients with GDAP1 missense mutations: a His256Arg homozygous mutation (c.767A>G + c.767A>G) and compound mutations of heterozygous Pro111His (c.332C>A) and Val219Gly (c.656T>G). The Pro111His and Val219Gly are unreported mutations, but the His256Arg was previously reported. In both patients, histopathological findings showed well-documented features of mixed demyelinating and axonal neuropathies, and nerve conduction velocities fall in the intermediate range. In addition, the patterns of fatty substitutions in leg magnetic resonance imaging (MRI) were different by the mutation sites within the same GDAP1 gene.

KW - CMT disease

KW - GDAP1

KW - Mutation

KW - Neuropathy

KW - RI-CMT

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Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations

Abstract

Keywords

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