Darbari Ensieh, Ahmadieh Hamid, Daftarian Narsis, Rezaei Kanavi Mozhgan, Suri Fatemeh, Sabbaghi Hamideh, Elahi Elahe
School of Biology, College of Science, University of Tehran, Tehran, Iran.
Opthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid University of Medical Sciences, Tehran, Iran.
J Ophthalmic Vis Res. 2022 Jan 21;17(1):51-58. doi: 10.18502/jovr.v17i1.10170. eCollection 2022 Jan-Mar.
Stargardt disease type 1 (STGD1) is a recessively inherited retinal disorder that can cause severe visual impairment. mutations are the usual cause of STGD1. codes a transporter protein exclusively expressed in retinal photoreceptor cells. The genecontains 50 exons. Mutations are most frequent in exons 3, 6, 12, and 13, and exons 10 and 42 each contain two common variations. We aimed to screen these exons for mutations in Iranian STGD1 patients.
Eighteen STGD1 patients were recruited for genetic analysis. Diagnosis by retina specialists was based on standard criteria, including accumulation of lipofuscin. The six exons were PCR amplified and sequenced by the Sanger method.
One or more -mutated alleles were identified in 5 of the 18 patients (27.8%). Five different mutations including two splice site (c.1356+1G A and c.5836-2A G) and three missense mutations (p.Gly1961Glu, p.Gly1961Arg, and p.Gly550Arg) were found. The p.Gly1961Glu mutation was the only mutation observed in two patients.
As mutations in exons 6, 12, 10, and 42 were identified in approximately 25% of the patients studied, these may be appropriate exons for screening projects. As in other populations, STDG1 causative mutations are heterogeneous among Iranian patients, and p.Gly1961Glu may be relatively frequent.
1型斯特格黄斑营养不良（STGD1）是一种隐性遗传的视网膜疾病，可导致严重视力损害。突变是STGD1的常见病因。编码一种仅在视网膜光感受器细胞中表达的转运蛋白。该基因包含50个外显子。突变最常见于外显子3、6、12和13，外显子10和42各包含两个常见变异。我们旨在筛查这些外显子，以寻找伊朗STGD1患者中的突变。
招募18名STGD1患者进行基因分析。视网膜专科医生根据包括脂褐素积累在内的标准进行诊断。通过聚合酶链反应（PCR）扩增这6个外显子，并采用桑格法进行测序。
在18名患者中的5名（27.8%）中鉴定出一个或多个突变等位基因。发现了5种不同的突变，包括2个剪接位点突变（c.1356+1G＞A和c.5836-2A＞G）和3个错义突变（p.Gly1961Glu、p.Gly1961Arg和p.Gly550Arg）。p.Gly1961Glu突变是在两名患者中观察到的唯一突变。
由于在所研究的约25%的患者中鉴定出了外显子6、12、10和42中的突变，这些外显子可能是适合筛查项目的外显子。与其他人群一样，伊朗患者中STDG1致病突变具有异质性，且p.Gly1961Glu可能相对常见。
