Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia.

ABSTRACT:

Background

Hereditary ataxia is a group of neurodegenerative diseases with progressive cerebellar ataxia of the gait and limbs as the main symptoms. The genetic patterns of the disease are diverse but it is mainly divided into autosomal dominant cerebellar ataxia (ADCA) and autosomal recessive cerebellar ataxia (ARCA), and about 45 pathogenic loci have been found in ADCA. The purpose of this study was to explore the genetic defect in a Chinese family with ADCA.

Methods

A three-generation Chinese family with ADCA was enrolled in this study, Exome sequencing was conducted in four family members, including the proband, and verified by Sanger sequencing.

Results

The rs779393130 mutation of the CACNA1C gene co-segregated with the ataxia phenotype in this family. The mutati

SUBMITTER: Chen J 

PROVIDER: S-EPMC6617910 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature