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.
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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