FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

ABSTRACT:

Purpose

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder where eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). It is ascribed to mutations in the forkhead transcriptional factor2 (FOXL2) gene. The purpose of this study is to identify mutations in FOXL2 of Chinese patients with BPES.

Methods

Genomic DNA was prepared from leucocytes of peripheral venous blood. The coding regions and nearby intron sequences of FOXL2 were analyzed by cycle and cloning sequencing.

Results

Four mutations in FOXL2 were identified in six families, including c.241T>C, c.650C>G, c.804dupC, and c.672_701dup. Of the four, the c.241T>C and c.650C>G were novel and would result in missense changes of the

SUBMITTER: Wang J 

PROVIDER: S-EPMC2533039 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature