Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.

ABSTRACT:

Background

Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. Patients with early-onset peripheral neuropathy associated with SLC12A6 heterozygous variants were reported in 2016. Only five families and three variants have been reported to date, and the spectrum is unclear. Here, we aim to describe the clinical and mutation spectra of SLC12A6-related Charcot-Marie-Tooth (CMT) disease in Japanese patients.

Methods

We extracted SLC12A6 variants from our DNA microarray and targeted resequencing data obtained from 2598 patients with clinically suspected CMT who were referred to our genetic laboratory by neurological or neuropediatric departments across Japan. And we summarized the clinical and genetic featu

SUBMITTER: Ando M 

PROVIDER: S-EPMC9268887 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature