Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.

ABSTRACT:

Introduction

Charcot-Marie-Tooth disease type 4C (CMT4C) OMIM#601596 stands out as one of the most prevalent forms of recessive motor sensory neuropathy worldwide. This disorder results from biallelic pathogenic variants in the SH3TC2 gene.

Methods

Within a cohort comprising 700 unrelated Russian patients diagnosed with Charcot-Marie-Tooth disease, we conducted a gene panel analysis encompassing 21 genes associated with hereditary neuropathies. Among the cohort, 394 individuals exhibited demyelinating motor and sensory neuropathy.

Results and discussion

Notably, 10 cases of CMT4C were identified within this cohort. The prevalence of CMT4C among Russian demyelinating CMT patients lacking the PMP22 duplication is estimated at 2.5%, significantly differing

SUBMITTER: Shchagina O 

PROVIDER: S-EPMC11187259 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature