Trio-based whole-exome sequencing of 200 Chinese patients with keratoconus

IF 3 2区医学 Q1 OPHTHALMOLOGY

Experimental eye research Pub Date : 2024-09-24 DOI:10.1016/j.exer.2024.110109

Xingyong Li , Yinghao Yao , Shilai Xing , Yi-Han Zheng , Yang Zhou , Xiaoguang Yu , Jianzhong Su , Shihao Chen , Zi-Bing Jin

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引用次数: 0

Abstract

Keratoconus (KC) is a complex corneal disorder with a well-recognized genetic component. In this study, we aimed to expand the genetic spectrum of 200 Chinese patients with keratoconus and their unaffected parents. Trio-based whole-exome sequencing was performed in 200 patients with sporadic keratoconus and their unaffected parents. The variants identified in candidate genes for keratoconus were analyzed using multiple bioinformatics tools. Finally, we identified 7 variants in 5 candidate genes for keratoconus in 5 patients. The c.T464C variant in the IMPDH1 gene was defined as likely pathogenic according to the guidelines of the American College of Medical Genetics and Genomics, and the remaining variants in candidate genes (TRANK1, SLC4A11, CERKL, IFT172) were defined as uncertain significance. Our results expand the genetic spectrum in KC, highlight the genetic heterogeneity of this disease and provide important clues for future functional validation.

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对 200 名中国角膜病患者进行基于三体的全外显子组测序

角膜塑形镜（KC）是一种复杂的角膜疾病，具有公认的遗传因素。在这项研究中，我们旨在扩大 200 名中国角膜炎患者及其未受影响的父母的遗传谱。我们对 200 名散发性角膜炎患者及其未受影响的父母进行了基于三重全外显子组测序。我们使用多种生物信息学工具分析了在角膜病候选基因中发现的变异。最后，我们在 5 名患者的 5 个角膜病候选基因中发现了 7 个变异。根据美国医学遗传学和基因组学学院（American College of Medical Genetics and Genomics）的指南，IMPDH1 基因中的 c.T464C 变异被定义为可能致病，其余候选基因（TRANK1、SLC4A11、CERKL、IFT172）中的变异被定义为意义不确定。我们的研究结果扩大了 KC 的基因谱，凸显了该疾病的遗传异质性，并为未来的功能验证提供了重要线索。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Experimental eye research 医学-眼科学

CiteScore

6.80

自引率

5.90%

发文量

323

审稿时长

66 days

期刊介绍： The primary goal of Experimental Eye Research is to publish original research papers on all aspects of experimental biology of the eye and ocular tissues that seek to define the mechanisms of normal function and/or disease. Studies of ocular tissues that encompass the disciplines of cell biology, developmental biology, genetics, molecular biology, physiology, biochemistry, biophysics, immunology or microbiology are most welcomed. Manuscripts that are purely clinical or in a surgical area of ophthalmology are not appropriate for submission to Experimental Eye Research and if received will be returned without review.