Identification of mutations associated with congenital cataracts in nineteen Chinese families.

IF 1.7 4区医学 Q3 OPHTHALMOLOGY

BMC Ophthalmology Pub Date : 2025-02-25 DOI:10.1186/s12886-025-03920-4

Hai-Sen Sun, Teng Huang, Zhe-Xuan Liu, Yi-Tong Xu, Ya-Qi Wang, Ming-Cheng Wang, Shen-Rong Zhang, Jia-Lin Xu, Kai-Yi Zhu, Wen-Kai Huang, Xiu-Feng Huang, Jin Li

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引用次数: 0

Abstract

Background: Congenital cataracts (CC) are one of the leading causes of impaired vision or blindness in children, with approximately 8.3-25% being inherited. The aim of this study is to investigate the mutation spectrum and frequency of 9 cataract-associated genes in 19 Chinese families with congenital cataracts.

Purpose: To identify the gene variants associated with congenital cataracts.

Methods: This study included a total of 58 patients from 19 pedigrees with congenital cataracts. All probands were initially screened by whole-exome sequencing(WES), and then validated by co-segregation analysis using Sanger sequencing.

Results: Likely pathogenic variants were detected in 8 families, with a positivity rate of 42.1%. Variants in various genes were identified, including GJA3, CRYGD, CRYBA4, BFSP2, IARS2, CRYAA, CRYBA1, ARL2 and CRYBB3. Importantly, this study identified compound heterozygous variants of IARS2 in one family.

Conclusions: Our research findings have revealed multiple gene variants associated with cataracts, providing clinical guidance for improved molecular diagnosis of congenital cataracts in the era of precision medicine.

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19个中国家庭先天性白内障相关突变的鉴定。

背景：先天性白内障（CC）是儿童视力受损或失明的主要原因之一，约8.3-25%是遗传性的。本研究旨在探讨中国19个先天性白内障家族中9个白内障相关基因的突变谱和频率。目的：鉴定与先天性白内障相关的基因变异。方法：本研究共纳入19个家系58例先天性白内障患者。所有先证者首先通过全外显子组测序（WES）筛选，然后通过Sanger测序进行共分离分析验证。结果：8个家族检出疑似致病变异，阳性率为42.1%。鉴定出多种基因的变异，包括GJA3、CRYGD、CRYBA4、BFSP2、IARS2、CRYAA、CRYBA1、ARL2和CRYBB3。重要的是，本研究在一个家族中发现了IARS2的复合杂合变异体。结论：我们的研究发现揭示了与白内障相关的多种基因变异，为精准医学时代先天性白内障的分子诊断提供临床指导。

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

BMC Ophthalmology OPHTHALMOLOGY-

CiteScore

3.40

自引率

5.00%

发文量

441

审稿时长

6-12 weeks

期刊介绍： BMC Ophthalmology is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of eye disorders, as well as related molecular genetics, pathophysiology, and epidemiology.