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

• Published in: Ophthalmic genetics Vol. 44; no. 2; pp. 163 - 170
• Main Authors: Jung, SeungHee, Park, Young Chan, Lee, DongHee, Kim, SiYeon, Kim, Sang-Mo, Kim, YoungJin, Lee, DongHyun, Hyun, JaeJoung, Koh, InSong, Lee, Jong-Young
• Format: Journal Article
• Language: English
• Published: England 01.04.2023
• Subjects: DNA Mutational Analysis; Exome Sequencing; Extracellular Matrix Proteins - chemistry; Extracellular Matrix Proteins - genetics; Humans; Mutation; Pedigree; Republic of Korea - epidemiology; Retinitis Pigmentosa - genetics; Republic of Korea; retinitis pigmentosa; Korean; Inherited mutation; USH2A
• ISSN: 1381-6810; 1744-5094; 1744-5094
• DOI: 10.1080/13816810.2022.2138456

Retinitis pigmentosa (RP) is an inherited disorder that causes progressive loss of vision. This study aimed to describe the possible causative variants of the gene in Korean RP families and their associated phenotypes. We recruited 94 RP families (220 subjects, including 94 probands and 126 family members) in a Korean cohort, and analyzed 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. We found 14 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. This study expands the spectrum of variants and provides information for future therapeutic strategies for RP.