Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.

ABSTRACT:

Objective

ITPR3, encoding inositol 1,4,5-trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot-Marie-Tooth neuropathy. Here, we present genetic and functional evidence that ITPR3 is a Charcot-Marie-Tooth disease gene.

Methods

Whole-exome sequencing of four affected individuals in an autosomal dominant family and one individual who was the only affected individual in his family was used to identify disease-causing variants. Skin fibroblasts from two individuals of the autosomal dominant family were analyzed functionally by western blotting, quantitative reverse transcription PCR, and Ca²⁺ imaging.

Results

Affected individuals in the autosomal dominant family had onset of symmetrical neuropathy with demyelina

SUBMITTER: Ronkko J 

PROVIDER: S-EPMC7545616 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature