BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.

ABSTRACT: To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity. A total of 25 participants including 13 patients and 12 healthy family members from 6 Chinese families with bestrophinopathies were available for genetic and clinical analysis. All of the patients were subjected to comprehensive ophthalmic evaluations and exome sequencing was performed on the probands to detect the causative variants. The pathogenicity of gene variants was predicted using silico analysis and evaluated according to ACMG guidelines. All (likely) pathogenic variants were determined by Sanger sequencing and co-segregation analyses were performed on available family members. The relevant original literature previou

SUBMITTER: Yang S 

PROVIDER: S-EPMC9834154 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature