先天性白内障致病基因筛查的研究进展

Research Progress of Screening Genes for Congenital Cataract

先天性白内障(Congenital cataract,CC)为一种先天性儿童眼部疾病,新生儿指出生后一年内发生的晶体混浊,为最常见的可导致儿童时期视力障碍或全盲的疾病之一。该疾病可呈现家族性发病或散发;可单侧或者双侧晶体发病;可伴随其他眼部症状、体征,如先天性小眼畸形等。先天性白内障的临床分型包括全白内障、后极性白内障、核型白内障、绕核白内障、膜白内障、中央粉尘状白内障等类型。在所有类型的先天性白内障病例中,25%是具有家族遗传性的,遗传方式包括AD(常染色体显性遗传),AR(常染色体隐形遗传)和X连锁隐形遗传等,其中以AD最为多见。随着分子生物学技术和二代、三代基因组测序技术的发展,先天性白内障的致病基因库有了快速的扩充。到目前为止,已经有80余个基因被报道并证实与先天性白内障的发生相关。在已发现的致病基因谱中,按功能分类可分为编码晶体蛋白的基因、编码膜蛋白基因、转录调节因子基因、细胞骨架蛋白基因、垂体同源盒基因、铁蛋白轻链基因、Eph-ephrin双向信号通路蛋白基因等。本文将对以上致病基因突变及功能研究进展作一综述。

Congenital cataract (CC) is a kind of congenital eye disease in children.It is pointed out that the clouding of the lens occurring in the first year after birth is one of the most common diseases that can lead to visual impairment or total blindness in children.The disease may be familial or sporadic,unilateral or bilateral crystal onset.It can be accompanied by other ocular symptoms and signs,such as congenital small eye deformity,etc.Clinical classification of congenital cataract includes total cataract,posterior polar cataract,nuclear cataract,circumnuclear cataract,membranous cataract,central dust cataract and so on.Among all types of congenital cataract cases,25% have familial inheritance,including AD (Autosomal dominant inheritance),AR (Autosomal invisible inheritance) and X-linked invisible inheritance,among which AD is the most common.With the development of molecular biology technology and the second and third generation genomic sequencing technology,the gene pool of congenital cataract has been rapidly expanded.Up to now,more than 80 genes have been reported and confirmed to be related to the occurrence of congenital cataract.According to the functional classification,the pathogenetic genes can be divided into crystallin-coding genes,membrane-coding genes,transcriptional regulatory factors,cytoskeleton proteins,pituitary homologous box genes,ferritin light chain genes,Eph-ephrin bidirectional signaling pathway proteins,and so on.In this paper,the mutation and function of the above pathogenic genes are reviewed.