Article
A Novel CRYBB2 Splicing Mutation Is Associated With Lens Extracellular Matrix Remodeling and Vascular Alterations in Congenital Cataract.
Investigative ophthalmology & visual science - 1 Apr 2026
Wei Xing, Wang Jing, Wang Yanyun, Zhou Cong, Chen Zhaoyi, Liu Shanling, Sun Huaqin, Zhou Bin, Zhang Lin
Abstract excerpt
Purpose: We identify the genetic cause of autosomal dominant congenital cataract in a large family and define how a CRYBB2 splice-site variant perturbs lens development and associated ocular phenotypes. Methods: Whole-exome sequencing and Sanger sequencing were used for variant identification and segregation. Wild-type (WT) or mutant CRYBB2 was expressed in lens epithelial cells to assess splicing and downstream...
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