中国汉族色素性视网膜炎家族EYS的一对新的复合杂合突变。

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2023-08-01 DOI:10.1089/gtmb.2023.0016
Chao Dai, Weiming Ren, Yao Wei, Chunbao Xie, Suyang Duan, Qi Li, Lingxi Jiang, Yi Shi
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引用次数: 0

摘要

背景:视网膜色素变性(RP)是一种复杂的遗传性进行性退行性视网膜疾病。闭眼同源基因(eyes shut homolog, EYS)通常与RP相关,且RP高得惊人。由于其独特的基因大小和物种特异性,研究EYS的功能相当困难。基因疗法可能是治疗这种疾病的突破口。因此,探索和阐明eys相关RP的致病突变对临床治疗具有重要的指导意义。方法:回顾性分析眼相关性RP的临床及分子遗传学资料。Sanger测序用于鉴定这些患者的新突变。候选致病变异随后使用生物信息学工具进行评估。结果:在RP家族EYS基因中发现了一对新的复合杂合突变:一个新的停止增益突变c.2439C>A (p. c813fsx)和一个移码缺失突变c.6714delT (p. P2238fsX)。这两种突变在1000基因组计划、dbSNP和基因组聚集数据库(gnomAD)中都是罕见或不存在的。这两个突变将导致EYS中缺乏多个功能重要的表皮生长因子样和层粘连蛋白g样编码区。结论:在一个RP常染色体遗传的中国家庭中发现了一个新的EYS基因复合杂合子。发现更多的致病突变,扩大EYS基因的突变谱,将有助于在未来更全面地了解RP病的分子发病机制。为该病的诊断、临床管理和遗传咨询提供重要依据。
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A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa.

Background: Retinitis pigmentosa (RP) is a complex inherited and progressive degenerative retinal disease. The eyes shut homolog (EYS) is frequently associated with RP is surprisingly high. Exploring the function of EYS is quite difficult due to the unique gene size and species specificity. Gene therapy may provide a breakthrough to treat this disease. Therefore, exploring and clarifying pathogenic mutations of EYS-associated RP has important guiding significance for clinical treatment. Methods: Clinical and molecular genetic data for EYS-associated RP were retrospectively analyzed. Sanger sequencing was applied to identify novel mutations in these patients. Candidate pathogenic variants were subsequently evaluated using bioinformatic tools. Results: A novel pair of compound heterozygous mutations was identified: a novel stop-gain mutation c.2439C>A (p.C813fsX) and a frameshift deletion mutation c.6714delT (p. P2238fsX) of the EYS gene in the RP family. Both of these mutations were rare or absent in the 1000 Genomes Project, dbSNP, and Genome Aggregation Database (gnomAD). These two mutations would result in a lack of multiple functionally important epidermal growth factor-like and Laminin G-like coding regions in EYS. Conclusions: A novel compound heterozygote of the EYS gene in a Chinese family with an autosomal inheritance pattern of RP was identified. Identifying more pathogenic mutations and expanding the mutation spectrum of the EYS gene will contribute to a more comprehensive understanding of the molecular pathogenesis of RP disease that could be gained in the future. It also could provide an important basis for the diagnosis, clinical management, and genetic counseling of the disease.

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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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