FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES)

被引：18

作者：

Fan, Jia-Yan

Wang, Ye-Fei

Han, Bing

Ji, Yong-Rong

Song, Huai-Dong

Fan, Xian-Qun ^{[1
]}

机构：

[1] Shanghai Jiao Tong Univ, Dept Ophthalmol, Shanghai Peoples Hosp 9, Shanghai 200030, Peoples R China

来源：

TRANSLATIONAL RESEARCH | 2011年 / 157卷 / 01期

基金：

中国国家自然科学基金;

关键词：

EPICANTHUS INVERSUS SYNDROME; TRANSCRIPTION FACTOR FOXL2; PTOSIS; EXPRESSION; EVOLUTION;

D O I：

10.1016/j.trsl.2010.08.005

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Blepharophimosis syndrome (BPES) is a rare, autosomal dominant disease. Two clinical types of BPES have been distinguished. In BPES type I, an eyelid malformation is associated with infertility in affected females as a result of premature ovarian failure. In BPES type II, eyelid anomalies alone are observed. Mutations of FOXL2, which is a gene encoding a forkhead transcription factor, have recently been shown to cause both types of BPES. Here, we report 1 novel duplication mutation of the FOXL2 gene identified in a large Chinese family affected by type II BPES and 1 less recurrent 17-bp duplication in a large Chinese family affected by BPES of an undetermined type. These new cases give additional support to the previously reported genotype phenotype correlations and our findings have expanded the spectrum of known mutations of the FOXL2 gene. (Translational Research 2011;157:48-52)

引用

页码：48 / 52

页数：5

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