Park Youngchan, Kim Youngjin, Koh Insong, Lee Jong-Young
Department of Biomedical Informatics, Hanyang University, Seoul 04763, Republic of Korea.
Division of Bio Bigdata, Department of Precision Medicine, Korea National Institution of Health, KCDC, Cheongju 28159, Republic of Korea.
Curr Issues Mol Biol. 2024 Sep 29;46(10):11021-11030. doi: 10.3390/cimb46100654.
Retinitis pigmentosa (RP) encompasses a diverse range of hereditary, degenerative retinal ailments, presenting notable obstacles to molecular genetic diagnoses due to the intricate array of variants in different genes involved. This study enrolled 21 probands and their families who have been diagnosed with nonsyndromic RP but without a previous molecular diagnosis. We employed whole-exome sequencing (WES) to detect possible harmful gene variations in individuals with unknown-cause RP at the molecular level. WES allowed the identification of ten potential disease-causing variants in eight different genes. In 8 out of the total 21 patients, this method successfully identified the underlying molecular causes, such as putative pathogenic variants in genes including , , , , , , , and . A novel variant was identified in one of these genes, specifically , providing valuable information on prospective targets for future enhanced gene therapeutic approaches.
视网膜色素变性（RP）涵盖了多种遗传性、退行性视网膜疾病，由于涉及的不同基因中存在复杂的变异阵列，给分子遗传学诊断带来了显著障碍。本研究招募了21名已被诊断为非综合征性RP但此前未进行分子诊断的先证者及其家族。我们采用全外显子组测序（WES）在分子水平上检测病因不明的RP个体中可能存在的有害基因变异。WES在八个不同基因中鉴定出十个潜在的致病变异。在总共21名患者中的8名患者中，该方法成功确定了潜在的分子病因，例如在包括 、 、 、 、 、 、 和 等基因中的推定致病变异。在这些基因中的一个基因，具体为 中鉴定出一个新的变异，为未来增强基因治疗方法的潜在靶点提供了有价值的信息。
