Department of Biomedical Informatics, Hanyang University, Seoul, Korea.
Oneomics Co, Ltd, Gyeonggi-do, Korea.
Ophthalmic Genet. 2023 Apr;44(2):163-170. doi: 10.1080/13816810.2022.2138456. Epub 2022 Oct 31.
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.
色素性视网膜炎（RP）是一种遗传性疾病，可导致视力逐渐丧失。本研究旨在描述韩国 RP 家族中 基因的可能致病变异及其相关表型。
我们招募了一个韩国队列中的 94 个 RP 家族（220 名受试者，包括 94 名先证者和 126 名家庭成员），并通过全外显子组测序分析 基因变异。根据美国医学遗传学与基因组学学院和分子病理学协会的指南对变异的致病性进行分类。
我们发现了 14 个致病变异，包括 5 个新变异。在 10 名 RP 先证者中发现了致病变异，占该队列中韩国 RP 的 10.6%（10/94）。为了直观地表示新变异引起的结构变化，我们对野生型和突变蛋白的三维结构进行了建模。
本研究扩展了 变异谱，并为未来的 RP 治疗策略提供了信息。
