title: Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.
abstract: 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.
authors.affiliation: Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
authors.forename: Elfride
authors.initials: E
authors.lastname: De Baere
authors.forename: Silvia
authors.initials: S
authors.lastname: Copelli
authors.forename: Sandrine
authors.initials: S
authors.lastname: Caburet
authors.forename: Paul
authors.initials: P
authors.lastname: Laissue
authors.forename: Diane
authors.initials: D
authors.lastname: Beysen
authors.forename: Sophie
authors.initials: S
authors.lastname: Christin-Maitre
authors.forename: Philippe
authors.initials: P
authors.lastname: Bouchard
authors.forename: Reiner
authors.initials: R
authors.lastname: Veitia
authors.forename: Marc
authors.initials: M
authors.lastname: Fellous
mesh_terms: D000818:Animals; D016569:Blepharophimosis / Q000235:genetics / Q000503:physiopathology*; D001763:Blepharoptosis / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000235:genetics / Q000503:physiopathology*; D013577:Syndrome
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors