FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

Hum Reprod. 2010 Jan;25(1):235-43. doi: 10.1093/humrep/dep355. Epub 2009 Oct 9.


FOXL2 mutations cause the autosomal dominant Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) that may be associated with premature ovarian failure (POF). However, little is known about the molecular mechanisms of FOXL2 actions in the human ovary. We conducted an extensive clinical, hormonal and ovarian histological study in two patients carrying a FOXL2 mutation associated with the typical eyelid malformations and infertility. This observational study was conducted at referral centres for POF. Histological and immunohistological studies were conducted on ovarian biopsies from two women with POF carrying a FOXL2 mutation resulting in putative polyalanine expansions of the protein. Abnormalities similar to those observed in mice with FOXL2 gene inactivation were present in the first patient's ovary, although the ovarian histology of the second patient was apparently normal. Different ovarian phenotypes, follicular defects and distribution of FOXL2 protein were observed in two patients carrying a FOXL2 mutation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blepharophimosis / complications
  • Blepharophimosis / genetics*
  • Female
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors / genetics*
  • Humans
  • Immunohistochemistry
  • Mutation
  • Ovarian Follicle / pathology
  • Phenotype
  • Primary Ovarian Insufficiency / complications
  • Primary Ovarian Insufficiency / genetics*
  • Syndrome


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