Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction

Pediatr Endocrinol Rev. 2005 Jun;2(4):653-60.


Recently the molecular basis of the blepharophimosis-ptosis-epicanthus inversus-syndrome (BPES), an autosomal dominant developmental disorder of the eyelids and ovary, was elucidated. This syndromic form of premature ovarian failure (POF) is caused by mutations in the gene encoding the forkhead transcription factor FOXL2. In this manuscript we review the clinical features of BPES, its molecular basis, the structural and functional characteristics of the FOXL2 gene and protein, and known animal models.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Blepharophimosis / genetics
  • Blepharophimosis / physiopathology*
  • Blepharoptosis / genetics
  • Blepharoptosis / physiopathology*
  • Child
  • Female
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors / genetics*
  • Humans
  • Mutation
  • Primary Ovarian Insufficiency / genetics
  • Primary Ovarian Insufficiency / physiopathology*
  • Syndrome


  • FOXL2 protein, human
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors