Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Otolaryngology/Head and Neck Surgery, Hadassah Medical Center, Jerusalem, Jerusalem, Israel.
J Med Genet. 2024 Feb 21;61(3):224-231. doi: 10.1136/jmg-2023-109482.
Inherited retinal diseases (IRDs) include a range of vision loss conditions caused by variants in different genes. The clinical and genetic heterogeneity make identification of the genetic cause challenging. Here, a cohort of 491 unsolved cases from our cohort of Israeli and Palestinian families with IRDs underwent whole exome sequencing (WES), including detection of CNVs as well as single nucleotide variants (SNVs).
All participants underwent clinical examinations. Following WES on DNA samples by 3 billion, initial SNV analysis was performed by 3 billion and SNV and CNV analysis by Franklin Genoox. The CNVs indicated by the programme were confirmed by PCR followed by gel electrophoresis.
WES of 491 IRD cases revealed the genetic cause of disease in 51% of cases, of which 11% were due wholly or in part to CNVs. In two cases, we clarified previously incorrect or unclear clinical diagnoses. This analysis also identified and as potential novel genes.
This analysis is the most extensive one to include CNVs to examine IRD causing genes in the Israeli and Palestinian populations. It has allowed us to identify the causative variant of many patients with IRDs including ones with unclear diagnoses and potential novel genes.
遗传性视网膜疾病（IRDs）包括一系列由不同基因变异引起的视力丧失病症。临床和遗传的异质性使得确定遗传原因具有挑战性。在这里，我们对来自以色列和巴勒斯坦有 IRD 家族的未解决的 491 例病例进行了全外显子组测序（WES），包括检测 CNVs 以及单核苷酸变异（SNVs）。
所有参与者均接受了临床检查。对 DNA 样本进行 30 亿次 WES 后，通过 30 亿次进行初始 SNV 分析，通过 Franklin Genoox 进行 SNV 和 CNV 分析。程序指示的 CNVs 通过 PCR 后凝胶电泳进行确认。
对 491 例 IRD 病例的 WES 揭示了 51%病例的疾病遗传原因，其中 11%完全或部分归因于 CNVs。在两个病例中，我们澄清了以前不正确或不明确的临床诊断。该分析还确定了 和 为潜在的新基因。
这是最广泛的一次分析，包括 CNVs，以检查以色列和巴勒斯坦人群中引起 IRD 的基因。它使我们能够确定许多 IRD 患者的致病变异，包括那些诊断不明确和潜在新基因的患者。
