Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population.

ABSTRACT: Objective: Variants in SYNE1 have been widely reported in ataxia patients in Europe, with highly variable clinical phenotype. Until now, no mutation of SYNE1 ataxia has been reported among the Chinese population. Our aim was to screen for SYNE1 ataxia patients in China and extend the clinicogenetic spectrum. Methods: Variants in SYNE1 were detected by high-throughput sequencing on a cohort of 126 unrelated index patients with unexplained autosomal recessive or sporadic ataxia. Pathogenicity assessments of SYNE1 variants were interpreted according to the ACMG guidelines. Potential pathogenic variants were confirmed by Sanger sequencing. Clinical assessments were conducted by two experienced neurologists. Results: Two Chinese families w

SUBMITTER: Peng Y 

PROVIDER: S-EPMC6306413 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature