Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.

ABSTRACT:

Purpose

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a developmental disease characterized by a complex eyelid malformation associated or not with premature ovarian failure (POF). BPES is essentially an autosomal dominant disease, due to mutations in the forkhead box L2 (FOXL2) gene, encoding a forkhead transcription factor. More than one hundred unique FOXL2 mutations have been described in BPES in different populations, many of which are missense mutations in the forkhead domain. Here, we report on a very severe form of BPES resulting from a missense mutation outside the forkhead domain.

Methods

A clinical and molecular genetic investigation was performed in affected and unaffected members of an Iranian family with BPES. The FOXL2 coding region was sequen

SUBMITTER: Haghighi A 

PROVIDER: S-EPMC3272052 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature