先天性白内障致病基因及其功能研究进展

Progress in pathogenic genes and their functions of congenital cataract

先天性白内障是儿童主要的致盲性眼病之一，约1／3与遗传有关。迄今为止，与遗传性自内障相关的基因至少有22个：10个晶状体蛋白基因：CRYAA、CRYAB、CRYBA1／A3、CRYBA4、CRYBB1、CRYBB2、CRYBB3、CRYGC、CRYGD、CRYGS；4个膜蛋白基因：GJA3、GJA8、MIP、LIM2；3个发育及转录因子基因：PITX3、MAF、HSF4；2个细胞骨架蛋白基因：BSFP1、BSFP2；1个染色质修饰蛋白4B基因：CHMP4B；1个酪氨酸激酶受体基因：EPHA2，1个NHS基因，其中部分基因已经在细胞学水平和（或）动物模型的整体水平对其功能进行研究，这将有助于揭示先天性白内障的发病机制。

Congenital cataract is the common cause of visual disability in children. Inherited isolated （non-syndromic） cataract represents one third of cases. Currently, at least 22 specific genes associated with isolated inherited cataract have been identified： ten erystallin genes： CRYAA, CRYAB, CRYBA1/A3, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS; 4 membrane protein genes： GJA3, GJA8, MIP, LIM2; three growth and transcription factor genes： PITX3, MAF, HSF4; two cytoskeletal protein gene： BSFP1, BSFP2; ehromatin modifying protein-4B gene： CHMP4B, EPHA2 and NHS, it is likely that more genes remain to be discovered. Some of the genes have been studied for their function by expression in cells or/and by knock-out animal models. The increasing availability of more detailed information about their functions makes it possible to understand the pathophysiology of congenital cataracts.