Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Medical Genetics Research Centre, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Sci Rep. 2020 Nov 10;10(1):19413. doi: 10.1038/s41598-020-75841-9.
Inherited retinal dystrophies (IRDs), displaying pronounced genetic and clinical heterogeneity, comprise of a broad range of diseases characterized by progressive retinal cell death and gradual loss of vision. By the combined use of whole exome sequencing (WES), SNP-array and WES-based homozygosity mapping, as well as directed DNA sequencing (Sanger), we have identified nine pathogenic variants in six genes (ABCA4, RPE65, MERTK, USH2A, SPATA7, TULP1) in 10 consanguineous Iranian families. Six of the nine identified variants were novel, including a putative founder mutation in ABCA4 (c.3260A>G, p.Glu1087Gly), detected in two families from Northeastern Iran. Our findings provide additional information to the molecular pathology of IRDs in Iran, hopefully contributing to better genetic counselling and patient management in the respective families from this country.
遗传性视网膜营养不良（IRDs）表现出明显的遗传和临床异质性，包括一系列以进行性视网膜细胞死亡和视力逐渐丧失为特征的广泛疾病。通过联合使用全外显子组测序（WES）、SNP 芯片和基于 WES 的纯合子作图以及定向 DNA 测序（Sanger），我们在 10 个伊朗近亲家庭的 6 个基因（ABCA4、RPE65、MERTK、USH2A、SPATA7、TULP1）中发现了 9 个致病性变异。所鉴定的 9 个变异中有 6 个是新的，包括在来自伊朗东北部的两个家庭中发现的 ABCA4 中的假定启动子突变（c.3260A>G，p.Glu1087Gly）。我们的发现为伊朗的 IRDs 分子病理学提供了更多信息，有望为该国的相关家庭提供更好的遗传咨询和患者管理。
