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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. 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. 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. 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. Copyright © 2011 Wiley Periodicals, Inc.

Citation

Sheng Dong Chen, Zheng Xi Li, Yang Tai Guan, Xia Jun Zhou, Jian Ming Jiang, Yong Hao. A novel mutation of gap junction protein β 1 gene in X-linked Charcot-Marie-Tooth disease. Muscle & nerve. 2011 Jun;43(6):887-92

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PMID: 21607969

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