Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

ABSTRACT: Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many reported GJB1 variants remain classified as variants of uncertain significance (VUS). In this large, international, multicentre study we prospectively collected demographic, clinical and genetic data on patients with CMT associated with GJB1 variants. Pathogenicity for each variant was defined using adapted American College of Medical Genetics criteria. Baseline and longitudinal analyses were conducted to study genotype-phenotype correlations, to calculate longitudinal change using the CMT Examination Score (CMTES), to compare males versus females, and p

SUBMITTER: Record CJ 

PROVIDER: S-EPMC10545504 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature