Advances in study on mutations of congenital cataract-related lens protein genes

• Main Authors: Yue Hai, Chang-Jun Lan, Xuan Liao
• Format: Article
• Language: English
• Published: Press of International Journal of Ophthalmology (IJO PRESS) 2021-06-01
• Series: Guoji Yanke Zazhi
• Subjects: crystallin; gene; lens; congenital cataract
• Online Access: http://ies.ijo.cn/cn_publish/2021/6/202106016.pdf

Congenital cataract is the most common cause of visual impairment and blindness in children worldwide, with about a quarter is related to genetics. To date, more than 100 gene mutations have been found in inherited congenital cataracts. As the most important component of the crystalline lens, the gene mutation of lens protein is closely related to congenital cataract. A large number of studies have confirmed that the pathogenic genes associated with congenital cataract include α/β/γ lens protein gene, membrane protein gene, cytoskeleton protein gene, and so on. About half of the mutations occurred in the lens protein genes, and the gene mutation may affect the stability, solubility and oligopoly of the protein, as well as interfere with the orderly arrangement of lens fibers, and lead to lens opacity. In this paper, the research progress of lens protein genes related to congenital cataract in recent years is reviewed.