title: The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
abstract: 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.
authors.affiliation: Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Regionale per le Microcitemie, Università degli Studi di Cagliari, Cagliari, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Crisponi
authors.forename: M
authors.initials: M
authors.lastname: Deiana
authors.forename: A
authors.initials: A
authors.lastname: Loi
authors.forename: F
authors.initials: F
authors.lastname: Chiappe
authors.forename: M
authors.initials: M
authors.lastname: Uda
authors.forename: P
authors.initials: P
authors.lastname: Amati
authors.forename: L
authors.initials: L
authors.lastname: Bisceglia
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: R
authors.initials: R
authors.lastname: Nagaraja
authors.forename: S
authors.initials: S
authors.lastname: Porcu
authors.forename: M S
authors.initials: MS
authors.lastname: Ristaldi
authors.forename: R
authors.initials: R
authors.lastname: Marzella
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: M
authors.initials: M
authors.lastname: Nicolino
authors.forename: A
authors.initials: A
authors.lastname: Lienhardt-Roussie
authors.forename: A
authors.initials: A
authors.lastname: Nivelon
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: D
authors.initials: D
authors.lastname: Schlessinger
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: G
authors.initials: G
authors.lastname: Pilia
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D016569:Blepharophimosis / Q000235:genetics; D001763:Blepharoptosis / Q000235:genetics; D002648:Child; D020090:Chromosome Segregation; D002893:Chromosomes, Human, Pair 3; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins / Q000235:genetics; D005141:Eyelid Diseases / Q000235:genetics*; D005143:Eyelids / Q000196:embryology; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D020440:Gene Duplication; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D009668:Nose Diseases / Q000235:genetics*; D010053:Ovary / Q000196:embryology; D010375:Pedigree; D006180:Proton-Translocating ATPases; D017386:Sequence Homology, Amino Acid; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; C498893:Foxl2 protein, mouse; D014157:Transcription Factors; D006180:Proton-Translocating ATPases