The human FOXL2 mutation database

Hum Mutat. 2004 Sep;24(3):189-93. doi: 10.1002/humu.20079.


Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; MIM# 110100) is an autosomal dominant genetic condition in which an eyelid malformation is associated (type I) or not associated (type II) with premature ovarian failure (POF). In 2001, mutations in the FOXL2 gene, encoding a forkhead transcription factor, were shown to cause both BPES type I and II. Since then, a number of reports have appeared that describe intragenic FOXL2 mutations in BPES patients. In addition, a few FOXL2 variants have been reported in isolated POF patients and XX males. Previously, our group has described a large number of FOXL2 mutations, thereby demonstrating the existence of two mutational hotspots in FOXL2, intra- and interfamilial phenotypic variability in BPES families, and genotype-phenotype correlations for a number of mutations in BPES patients. Here we describe a locus-specific Human FOXL2 Mutation Database (, created using the MuStaR software. Our database contains general information about the FOXL2 gene, as well as details about 135 intragenic mutations and variants of FOXL2, obtained from published papers, abstracts of meetings, and from unpublished data produced by our group. Not included in the current version of the database are variants residing outside the coding region of FOXL2 and molecular cytogenetic rearrangements of the FOXL2 locus. The Human FOXL2 Mutation Database was created to provide a unique publicly available online resource of information about human FOXL2 mutations/variants associated with BPES and POF. It allows remote users to submit new mutations to the database and to query the database using a web form. It will facilitate evaluation of the pathogenicity of a particular mutation, as it contains data about disease-causing mutations and polymorphisms in BPES and isolated POF patients, and a link to the known FOXL2 orthologs. Moreover, it will allow us to establish more accurate genotype-phenotype correlations, since clinical information is contained in the database.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Blepharophimosis / genetics*
  • Chromosomes, Human, Pair 3 / genetics
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology
  • Databases, Genetic*
  • Female
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors
  • Gene Expression Regulation, Developmental / genetics
  • Genes
  • Genes, Dominant
  • Genetic Heterogeneity
  • Genetic Variation
  • Humans
  • Internet
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Phenotype
  • Polymorphism, Genetic
  • Primary Ovarian Insufficiency / genetics*
  • Software
  • Syndrome
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*
  • Transcription Factors / physiology
  • User-Computer Interface


  • DNA-Binding Proteins
  • FOXL2 protein, human
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors
  • Transcription Factors

Associated data

  • GENBANK/AF301906
  • OMIM/110100
  • OMIM/605597
  • RefSeq/NM_023067