Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

ABSTRACT:

Objective

To determine the prevalence and clinical and genetic characteristics of patients with X-linked Charcot-Marie-Tooth disease (CMT) due to mutations in noncoding regions of the gap junction β-1 gene (GJB1).

Methods

Mutations were identified by bidirectional Sanger sequence analysis of the 595 bases of the upstream promoter region, and 25 bases of the 3' untranslated region (UTR) sequence in patients in whom mutations in the coding region had been excluded. Clinical and neurophysiologic data were retrospectively collected.

Results

Five mutations were detected in 25 individuals from 10 kindreds representing 11.4% of all cases of CMTX1 diagnosed in our neurogenetics laboratory between 1996 and 2016. Four pathogenic mutations, c.-17G>A, c.-17+1G>T, c.-103C>T

SUBMITTER: Tomaselli PJ 

PROVIDER: S-EPMC5386440 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature