摘要篇首： Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM # 110100) is a rare autosomal dominant disorder affecting the eyelid and ovarian development. When co-occurred together, it is type I and when only the eyelid abnormalities are present, it is type II. Both types had been mapped to the same locus 3q23 on the basis of cytogenetic rearrangements 1-3 and linkage analyses. 4-6 Subsequently, haploinsufficiency of the FOXL2 gene (OMIM# 605597) was identified as the cause for both types. 7 This FOXL2 gene is a small gene consisting of a single exon of 2.7 kb. It belongs to the family of winged helix/forkhead transcription factors. The predicted protein of 376 amino acids contains the characteristic 100 amino acids (from amino acid position 52 to 152) DNA binding forkhead domain. Downstream of the forkhead is an alanine rich domain, consisting of 14 alanines (from amino acid position 221 to 234). This protein has been shown to express in the developing mouse eyelids, in both the fetal and adult ovarian follicular and stromal cells. 7, 8 Since the identification of the gene, increasing number of mutations are being described. Recently, a database (http://medgen.ugent.be/foxl2/) has been created to facilitate tracking of all the known FOXL2 intragenic mutations and variants. 9 Whether it is type I or II BPES depends on the FOXL2 genotype plus other unknown mechanism because for the same genotype, there is inter and intra-familial phenotypic variability.10 Furthermore, FOXL2 mutation might be associated with non-syndromic premature ovarian failure. In this work, we screened for FOXL2 mutations in our Chinese patients using multiplex ligation-dependent probe amplification (MLPA) and direct sequencing techniques.