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Article

Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies.

International journal of biological macromolecules - 31 Oct 2021

Xu Jingjie, Wang Huaxia, Wu Chengpeng, Wang Ailing, Wu Wei, Xu Jia, Luo Chenqi, Ni Shuang, Yao Ke, Chen Xiangjun

Abstract excerpt

Congenital cataracts, which are genetically heterogeneous eye disorders, lead to visual impairment in childhood. In our previous study, we identified a novel mutation in exon 4 of the CRYBA1/BA3 gene, which resulted in the deletion of a highly conserved glycine at codon 91 (G91del) and perinuclear zonular cataract. The G91del variant is one of the most frequent pathogenic mutations in CRYBA1/BA3; however, its...

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PMID: 34419537
DOI: 10.1016/j.ijbiomac.2021.08.111

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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