Variant in EZR leads to defects in lens development.

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-04-02 DOI:10.1080/13816810.2024.2330391
Nan Zhou, Mingyan He, Guangkai Zhou, Qiuyang Fan, Yanhua Qi
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引用次数: 0

Abstract

Background: Congenital cataract is a common cause of blindness. Genetic factors always play important role.

Material and methods: This study identified a novel missense variant (c.1412C>T (p.P471L)) in the EZR gene in a four-generation Chinese family with nuclear cataract by linkage analysis and whole-exome sequencing. A knockout study in zebrafish using transcription activator-like effector nucleases was carried out to gain insight into candidate gene function.

Results: Conservative and functional prediction suggests that the P-to-L substitution may impair the function of the human ezrin protein. Histology showed developmental delays in the ezrin-mutated zebrafish, manifesting as multilayered lens epithelial cells. Immunohistochemistry revealed abnormal proliferation patterns in mutant fish.

Conclusions: The study suggests that ezrin may be involved in the enucleation and differentiation of lens epithelial cells.

EZR 变异导致晶状体发育缺陷。
背景:先天性白内障是常见的致盲原因:先天性白内障是常见的致盲原因。材料与方法:本研究通过关联分析和全外显子组测序,在一个四代同堂的中国核性白内障家族中发现了EZR基因中的一个新型错义变异(c.1412C>T (p.P471L))。为了深入了解候选基因的功能,研究人员利用转录激活剂样效应核酸酶对斑马鱼进行了基因敲除研究:保守和功能预测表明,P-L替换可能会损害人类ezrin蛋白的功能。组织学显示,ezrin突变的斑马鱼发育迟缓,表现为多层晶状体上皮细胞。免疫组化显示突变鱼的增殖模式异常:该研究表明,ezrin 可能参与了晶状体上皮细胞的去核和分化。
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
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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