Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing.

ABSTRACT: Background: Dystonia is a movement disorder with high clinical and genetic heterogeneity. Recently mutations in lysine-specific histone methyltransferase 2B (KMT2B) gene have been reported to be associated with early-onset progressive dystonia. Methods: We performed whole-exome sequencings (WES) in a cohort of early-onset dystonia patients from China. Bioinformatics analysis and cosegregation testings were conducted to select candidate causal variants. The effects of identified variants were classified according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines. Results: Three novel KMT2B variants were identified, including p.Q1359^* in patient 1, p.R1487AfsTer7 in patient 2, and p.R152W in patient 3. Among

SUBMITTER: Ma J 

PROVIDER: S-EPMC6626906 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature