Advances in genetic research of FOXL2 in patients with blepharophimosis-ptosis-epicanthus inversus syndrome
10.3760/cma.j.cn115989-20200509-00323
- VernacularTitle: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
- Author:
Lin YANG
1
;
Min KE
;
Xiaomin CHEN
Author Information
1. 武汉大学中南医院眼科 430071
- From:
Chinese Journal of Experimental Ophthalmology
2020;38(8):726-728
- CountryChina
- Language:Chinese
-
Abstract:
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.
