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Article

A potential novel role of the R36P mutation in CRYGD in congenial cataract.

Molecular vision - 1 Jan 2024

Tan Chen, Yu Xueting, Chen Junyi, Sun Xinghuai, Wang Li

Abstract excerpt

Purpose: Congenital cataract is an important cause of visual impairment in childhood. Our previous study reported that the c.110G>C (p.R36P) mutation in the γD-crystallin gene (CRYGD) was associated with congenital cataract in a Chinese family. This study aimed to investigate the potential underlying mechanism through which the p.R36P mutation leads to congenital cataract. Methods: Plasmids encoding wide-type...

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PMID: 39563676
PMCID: PMC11575838

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