The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781.


In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blepharophimosis / genetics
  • Blepharoptosis / genetics
  • Child
  • Chromosome Segregation
  • Chromosomes, Human, Pair 3
  • Codon, Nonsense
  • DNA-Binding Proteins / genetics
  • Eyelid Diseases / genetics*
  • Eyelids / embryology
  • Female
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors
  • Gene Duplication
  • Humans
  • Male
  • Mice
  • Molecular Sequence Data
  • Mutation*
  • Nose Diseases / genetics*
  • Ovary / embryology
  • Pedigree
  • Proton-Translocating ATPases
  • Sequence Homology, Amino Acid
  • Syndrome
  • Transcription Factors / genetics


  • Codon, Nonsense
  • DNA-Binding Proteins
  • FOXL2 protein, human
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors
  • Foxl2 protein, mouse
  • Transcription Factors
  • Proton-Translocating ATPases

Associated data

  • GENBANK/AF060873
  • GENBANK/AF301906
  • GENBANK/AF321613

Grants and funding