CMT X: Mutation in connexin 32 causes CMT in a large Chinese Family

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Muscle Nerve. 2010 Aug 20

Mutation in connexin 32 causes charcot-marie-tooth disease in a large Chinese

family.

Guo F, Shi Y, Lin Y, Liu X, Liu B, Liu Y, Yang Y, Lu F, Ma S, Yang Z.

Department of Neurology, Sichuan Academy of Medical Sciences & Sichuan

Provincial People's Hospital, Sichuan, China.

Abstract

The purpose was to study the clinical features and genetics of a large Chinese

family with Charcot-Marie-Tooth (CMT) disease. A genome-wide linkage scan using

Applied Biosystems v. 2.5 411 short tandem repeat (STR) markers was performed in

this family. Mutation screening was conducted on connexin 32 (Cx32). Prediction

of impact of the mutation and sequence alignments of Cx32 in 10

vertebrates were performed using Polyphen and Clustal W, respectively. Twelve

family members were diagnosed as CMT type 1. An X-chromosome locus (DXS991) was

linked to the phenotype of this family by the genome-wide linkage analysis. An

H100Y mutation found in Cx32 was predicted to be possibly damaging to the

function of Cx32, with a PSIC score difference of 1.758. The H100 of Cx32 is

highly conserved among the 10 vertebrates.

A large Chinese family had CMTX1 linked to Xq13.1 caused by an H100Y mutation in

the Cx32 gene mutation in the Cx32 gene.