ANO3 Mutations in Chinese Dystonia: A Genetic Screening Study Using Next-Generation Sequencing.

ABSTRACT: Background: Dystonia-24 (DYT24) is a monogenic autosomal dominant dystonia caused by mutations in the gene ANO3, which has shown phenotypic and genotypic heterogeneity according to previous reports. Objective: To screen and identify ANO3 mutations in a cohort of patients with dystonia in China and to expand the spectrum of DYT24. Methods: This study screened ANO3 mutations in 187 Chinese dystonia patients using next-generation sequencing (NGS). In silico investigations were conducted in detected ANO3 variants and co-segregation analysis was carried out if applicable. The effects of identified variants were classified according to the standards and guidelines of the American College of Medical Genetics and Genomics (ACMG). Results: Four different variants were identified in four unrelated d

SUBMITTER: Li S 

PROVIDER: S-EPMC7020335 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature