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A novel mutation of gap junction protein beta 1 gene in x‐linked charcot–marie–tooth disease
Author(s) -
Chen Sheng Dong,
Li Zheng Xi,
Guan Yang Tai,
Zhou Xia Jun,
Jiang Jian Ming,
Hao Yong
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21992
Subject(s) - proband , mutation , asymptomatic carrier , sural nerve , asymptomatic , tooth disease , nerve conduction velocity , medicine , nerve biopsy , degenerative disease , connexin 32 , electrophysiology , genetics , pathology , gene , peripheral neuropathy , disease , biology , endocrinology , gap junction , intracellular , connexin , diabetes mellitus
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