先天性白内障致病基因的研究进展

Current research in congenital cataract genes

先天性白内障是导致儿童低视力和失明的主要原因，约1／3的先天性白内障患者是遗传所致。先天性白内障的病因不同，且表型多样。先天性白内障与特定的基因突变有关，其致病基因主要包括编码晶状体的结构蛋白、缝隙连接蛋白、膜蛋白、晶状体发育中的调节蛋白基因。定位和识别导致白内障形成的基因突变对了解先天性白内障的分子缺陷和病理生理的特点是必要的。随着分子遗传学技术的发展，先天性白内障发病的分子机制研究已取得了较大的进展，进一步了解遗传、环境及营养等因素对晶状体代谢的影响。就先天性白内障的致病基因及其分子发病机制的研究进展进行综述。

Congenital cataract is the leading cause for low vision and blindness in infancy and childhood. One third of congenital cataract cases are associated with genetic mutation and hereditary, and the etiology of congenital cataract is heterogenous and its phenotype is variable. The known mutation genes include encoding structural lens protein, gap junction protein, membrane protein and lens-developing-related regulatory protein. Location and identification of mutation genes in congenital cataract patients are necessary for us to understand the molecular defects and pathophysiologic features of congenital cataract. With the development of molecular biology techniques, the study on the mechanism of congenital cataract has made great progress, which is helpful for us to further understand the heredity pattern as well as the influence of environment and nourishment to the metabolism of lens. The purpose of this review was to summarize the literature of current advance in the study on molecular genetic basis of congenital cataract.