Four Novel Mutations in FOXL2 Gene Are Detected in Chinese Patients With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

Abstract

Purpose:: Blepharophimosis-ptosis-epicanthus inversus syndrome is an autosomal dominant disorder characterized by abnormalities of the eyelids and ovarian development. The purpose of this study was to screen mutations of the FOXL2 gene in the Chinese patients with BPES.

Methods:: Patients from three BPES families and ten sporadic cases were screened for mutations by direct sequencing of the entire coding region of the FOXL2 gene.

Results:: Four novel FOXL2 mutations, g.1079-1095dup, g.1208-1221del, g.628-629insG, and g.849G>A (W204X) were identified, in adition to two known mutations reported previously, g.909-938dup and g.1041dupC. Each of the six mutations is reported the first time in Chinese patients.

Conclusions:: Here we added four novel mutations of the FOXL2 gene into the existing spectrum of mutations.

Keywords: gene screening • gene/expression • gene mapping