A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.

ABSTRACT:

Background

Charcot-Marie-Tooth (CMT) disease is the most frequent hereditary motor sensory neurological disease. GJB1 gene is the second most frequent cause of CMT, accounting for approximately 10% of CMT cases worldwide. We identified a large Han family with X-linked CMT disease.

Methods

In this study, the probands and his mother underwent electrophysiological examinations and other family members were assessed retrospectively. Whole-exome sequencing, Sanger sequencing, and SNP array linkage analysis were performed to find and confirm the variant. The functional effect of the identified variant was further investigated in HEK293 cells and MCF-7 cells by minigene splicing assay.

Results

The affected individuals had some clinical symptoms including symmetric atrophy an

SUBMITTER: Li M 

PROVIDER: S-EPMC10009907 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature