Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa

Abstract

Background Retinitis pigmentosa (RP) is an inherited disorder that causes progressive loss of vision. This study aimed to describe the possible causative variants of the USH2A gene in Korean RP families and their associated phenotypes. Materials and methods We recruited 94 RP families (220 subjects, including 94 probands and 126 family members) in a Korean cohort, and analyzed USH2A gene variants through whole-exome sequencing. The pathogenicity of the variants was classified according to American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines. Results We found 14 USH2A disease-causing variants, including 5 novel variants. Disease causing variants were identified in 10 probands with RP, accounting for 10.6% (10/94) of the Korean RPs in the cohort. To visually represent the structural changes induced by novel variants, we modeled the three-dimensional structures of the wild-type and mutant proteins. Conclusions This study expands the spectrum of USH2A variants and provides information for future therapeutic strategies for RP.