Faculty of Medicine, Department of Medical Genetics, Erciyes University, Kayseri, Turkey.
Department of Ophthalmology, Acibadem Kayseri Hospital, Kayseri, Turkey.
Clin Genet. 2024 Sep;106(3):258-266. doi: 10.1111/cge.14529. Epub 2024 Apr 4.
This research aims to compile recent clinical and genetic data from Turkish patients with inherited retinal disorders and evaluate the effectiveness of targeted Next-generation sequencing panels. The study included Turkish individuals with hereditary retinal diseases who visited the Medical Genetic Department of Erciyes University between 2019 and 2022. One proband per family was selected based on eligibility. We used Hereditary Disorder Solution (HDS) by Sophia Genetics and performed next-generation sequencing (NGS) with Illumina NextSeq-500. Bioinformatics analysis using Sophia DDM® SaaS algorithms and ACMG guidelines classified genomic changes. The study involved 354 probands. Disease-causing variants were found in 58.1% of patients, with ABCA4, USH2A, RDH12, and EYS being the most frequently implicated genes. Forty-eight novel variants were detected. This study enhances the knowledge of clinical diagnoses, symptom onset, inheritance patterns, and genetic details for Turkish individuals with hereditary retinal disease. It contributes to broader health strategies by enabling comparisons with other studies.
本研究旨在整合土耳其遗传性视网膜疾病患者的最新临床和遗传数据，并评估靶向下一代测序（NGS）在其中的应用效果。该研究纳入了 2019 年至 2022 年间在埃尔吉耶斯大学医学遗传学部就诊的土耳其遗传性视网膜疾病患者。根据入选标准，每个家系选择 1 名先证者。我们使用了 Sophia Genetics 的 Hereditary Disorder Solution（HDS），并使用 Illumina NextSeq-500 进行了 NGS。Sophia DDM® SaaS 算法和 ACMG 指南的生物信息学分析对基因组变化进行了分类。本研究共纳入 354 名先证者。58.1%的患者存在致病性变异，其中 ABCA4、USH2A、RDH12 和 EYS 是最常受累的基因。共检测到 48 个新变异。本研究增加了对土耳其遗传性视网膜疾病患者的临床诊断、症状发作、遗传模式和基因细节的了解，通过与其他研究的比较，为更广泛的健康策略做出了贡献。
