Subclinical parents assist in the detection of genetic variants in keratoconus by trio-based whole-exome sequencing.

IF 1.8 3区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Molecular Vision Pub Date : 2025-02-17 eCollection Date: 2025-01-01

Xingyong Li, Yinghao Yao, Shilai Xing, Siwen Ma, Shuaiyue Pang, Yang Zhou, Shihao Chen

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引用次数: 0

Abstract

Purpose: To explore the genetic variants of 14 keratoconus trios containing subclinical parents.

Methods: Trio-based whole-exome sequencing was performed in 14 keratoconus trios containing subclinical parents. The variants identified in candidate genes of keratoconus were analyzed by multiple bioinformatics tools.

Results: We identified 12 variants in 10 candidate genes of keratoconus (COL5A1, TGFBI, CAST, MPDZ, WNT10A, MYOF, ERMP1, MAP3K19, COL1A1, and WNT16). All variants were novel, not previously reported, and defined as uncertain significance according to the American College of Medical Genetics and Genomics guidelines. All variants were heterozygous and autosomal dominant cosegregated in keratoconus families.

Conclusions: We found that the candidate variants identiﬁed in clinically diagnosed patients and their subclinical parents may cause keratoconus through an autosomal dominant inheritance pattern, with different variable expressivity. This study indicates that genetic testing may play an important role in identifying patients with latent keratoconus and high-risk individuals for corneal ectasia after refractive surgery.

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亚临床父母通过三基全外显子组测序协助圆锥角膜遗传变异的检测。

目的：探讨具有亚临床亲本的14例三圆锥角膜的遗传变异。方法：对14例具有亚临床亲本的三胞胎圆锥角膜进行全外显子组测序。利用多种生物信息学工具对圆锥角膜候选基因的变异进行分析。结果：我们在圆锥角膜的10个候选基因（COL5A1、TGFBI、CAST、MPDZ、WNT10A、MYOF、ERMP1、MAP3K19、COL1A1和WNT16）中鉴定出12个变异。所有的变异都是新的，以前没有报道过，并且根据美国医学遗传学和基因组学学院的指导方针被定义为不确定的意义。圆锥角膜家族中所有变异均为杂合型和常染色体显性共分离型。结论：我们发现在临床诊断的患者及其亚临床父母中发现的候选变异可能通过常染色体显性遗传模式引起圆锥角膜，具有不同的变量表达率。本研究提示基因检测可能在识别屈光术后潜伏性圆锥角膜患者和角膜扩张高危人群中发挥重要作用。

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

Molecular Vision 生物-生化与分子生物学

CiteScore

4.40

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Molecular Vision is a peer-reviewed journal dedicated to the dissemination of research results in molecular biology, cell biology, and the genetics of the visual system (ocular and cortical). Molecular Vision publishes articles presenting original research that has not previously been published and comprehensive articles reviewing the current status of a particular field or topic. Submissions to Molecular Vision are subjected to rigorous peer review. Molecular Vision does NOT publish preprints. For authors, Molecular Vision provides a rapid means of communicating important results. Access to Molecular Vision is free and unrestricted, allowing the widest possible audience for your article. Digital publishing allows you to use color images freely (and without fees). Additionally, you may publish animations, sounds, or other supplementary information that clarifies or supports your article. Each of the authors of an article may also list an electronic mail address (which will be updated upon request) to give interested readers easy access to authors.