Congenital cataract(CC)is one of the important causes of visual impairment in infants and young children. Approximately 30% of cases are associated with monogenic mutations. It is one of the core diseases in pediatric blindness prevention and treatment. The maintenance of lens transparency is closely related to membrane protein-mediated intercellular communication, water transport, and the orderly arrangement of fiber cells. This review focuses on the gap junction protein genes(GJA8 and GJA3), related to lens membrane function, the major intrinsic protein gene(MIP/AQP0), and the lens intrinsic membrane protein 2 gene(LIM2), and summarizes the inheritance patterns, clinical phenotypes, and pathogenic mechanisms of related monogenic mutations. Current evidence indicates that GJA8 and GJA3 mutations mainly disrupt lens cell homeostasis by affecting gap junction channel function, protein localization, and hemichannel opening; MIP/AQP0 mutations may impair water transport and intercellular adhesion, leading to abnormal fiber cell arrangement; in addition to the classic autosomal recessive inheritance pattern, dominant LIM2 mutations may affect membrane protein complex assembly through aberrant disulfide bond formation, thereby causing lens opacification. A systematic review of the mutational characteristics and mechanisms of these genes may help clarify the role of membrane protein abnormalities in the development and progression of CC and provide a reference for molecular diagnosis, genetic counseling, and subsequent intervention research.

陕西省卫生健康高层次人才培育计划团队项目