Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

ABSTRACT:

Background

Although many causative genes have been uncovered in recent years, genetic diagnosis is still missing for approximately 50% of autosomal recessive cerebellar ataxia (ARCA) patients. Few studies have been performed to determine the genetic spectrum and clinical profile of ARCA patients in the Chinese population.

Methods

Fifty-four Chinese index patients with unexplained autosomal recessive or sporadic ataxia were investigated by whole-exome sequencing (WES) and copy number variation (CNV) calling with ExomeDepth. Likely causal CNV predictions were validated by CNVseq.

Results

Thirty-eight mutations including 29 novel ones were identified in 25 out of the 54 patients, providing a 46.3% positive molecular diagnostic rate. Ten different genes were involved, of

SUBMITTER: Cheng HL 

PROVIDER: S-EPMC8522248 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature