A Novel PAX6 Frameshift Mutation Identified in a Large Chinese Family with Congenital Aniridia.

ABSTRACT: Congenital aniridia is a rare autosomal dominant congenital ocular disorder. Genetic studies suggest that heterozygous mutations in the developmental regulator PAX6 gene or the related regulatory regions leading to haploinsufficiency are the main cause of congenital aniridia. In this study, the clinical characteristics and pathogenic mutation of a four-generation Chinese family with congenital aniridia were investigated. All members recruited in this study underwent comprehensive ophthalmic examinations. Targeted gene capture sequencing and Sanger sequencing were performed to screen and confirm the candidate pathogenicity gene and its mutation. A multiple alignment of homologous sequences covering the identified mutation from different species was investigated, and the mutant protei

SUBMITTER: Wang C 

PROVIDER: S-EPMC10052173 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature