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A novel mutation of gap junction protein beta 1 gene in x-linked charcot–marie–tooth disease

✍ Scribed by Sheng Dong Chen; Zheng Xi Li; Yang Tai Guan; Xia Jun Zhou; Jian Ming Jiang; Yong Hao

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
287 KB
Volume
43
Category
Article
ISSN
0148-639X

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✦ Synopsis

Abstract

Introduction: In this study we report a novel mutation in the gap junction protein beta 1 (GJB1) gene of a Chinese X‐linked Charcot–Marie–Tooth disease (CMTX1) family, which has specific electrophysiological characteristics. Methods: Twenty members in the family were studied by clinical neurological examination and GJB1 gene mutation analysis, and 3 patients were studied electrophysiologically. The proband and his mother also underwent sural nerve biopsy. Results: All patients have the CMT phenotype, except for 2 asymptomatic carriers. Electrophysiological examinations showed non‐uniform slowing of motor conduction velocities and partial motor conduction blocks and temporal dispersion. Sural nerve biopsy confirmed a predominantly demyelinating neuropathy, and an Asn2Lys mutation in the amino‐terminal domain was found in 9 members of this family, but not in 25 normal controls in the family. Conclusions: This family represents a novel mutation in the GJB1 form of CMTX1. The mutation in the amino‐terminus has an impact on the electrophysiological characteristics of the disease. Muscle Nerve, 2011

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