A novel FOXL2 mutation in two infertile patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

ABSTRACT:

Background

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare, autosomal dominant disease. There are two clinical types of BPES: type I patients have eyelid abnormalities accompanied by infertility in affected females, while type II patients only display eyelid malformations. Previous studies have reported that the forkhead box L2 (FOXL2) gene mutations cause BPES.

Purpose

To identify plausible FOXL2 mutation in a Chinese family with BPES and infertility METHODS: Mutational screening of FOXL2 was performed in the affected members and 223 controls. Functional characterization of the novel mutation identified was carried out in vitro by luciferase reporter assay and subcellular localization experiment.

Results

A novel heterozygous mutation c.188 T > A

SUBMITTER: Hu J 

PROVIDER: S-EPMC7000634 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature