先天性睑裂狭小综合征患者中FOXL2基因相关遗传学研究进展

Advances in genetic research of FOXL2 in patients with blepharophimosis-ptosis-epicanthus inversus syndrome

先天性睑裂狭小综合征(BPES)是一种罕见的先天性眼睑及颜面部发育异常,典型的眼睑发育异常主要表现为睑裂狭小、逆向内眦赘皮、上睑下垂和内眦间距过宽。BPES分为两型,Ⅰ型表现为眼睑畸形及女性患者不孕,男性患者生育功能正常;Ⅱ型BPES患者临床表现为眼睑发育不良同时男女患者均可生育。通过对BPES患者行遗传学分析发现FOXL2基因是首位致病基因,并且FOXL2基因突变与2种表型BPES发病均有关。随着研究的深入,FOXL2基因型与表型的关系越来越受到关注,而且有研究发现FOXL2基因的同一突变在不同家系,甚至同一家系可能出现不同表型。就FOXL2基因突变与BPES之间的关系进行综述。

Blepharophimosis-ptosis-epicanthus inversus syndrome(BPES)is a rare autosomal dominant disease,which has been divided into two types according to whether it involves premature ovarian failure.BPES is characterized by typical eyelid malformations,including a narrowed horizontal palpehral aperture,ptosis,epicanthus inversus and telecanthus.Mutations in FOXL2 have been identified in the majority of patients with BPES.With the deepening of research,the relationship between FOXL2 genotype and phenotype has received more and more attention,and some researchers have found that the same mutation of the FOXL2 gene may have different phenotypes in different families or even the same family.This review summarizes the relationship between FOXL2 gene mutation and BPES.