A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia.

ABSTRACT:

Background

The etiology and pathogenesis of idiopathic dystonia remain obscure. Recent studies revealed that compound heterozygous mutations in collagen type VI alpha-3 gene COL6A3 may cause recessive isolated dystonia (DYT)-27. However, whether COL6A3 mutations are associated with Chinese patients with isolated dystonia is not yet reported.

Methods

In this study, 45 Chinese patients with isolated cervical dystonia were recruited, and their blood DNA samples were subjected to whole-exome sequencing. The potential causal variants of COL6A3 were identified based on the criteria of the American College of Medical Genetics and Genomics and by prediction software.

Results

Among 45 isolated cervical dystonia patients, 18 patients (10 female patients and

SUBMITTER: Wu R 

PROVIDER: S-EPMC10110855 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature