The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
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.
Crisponi
L
L
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.
Deiana
M
M
Loi
A
A
Chiappe
F
F
Uda
M
M
Amati
P
P
Bisceglia
L
L
Zelante
L
L
Nagaraja
R
R
Porcu
S
S
Ristaldi
M S
MS
Marzella
R
R
Rocchi
M
M
Nicolino
M
M
Lienhardt-Roussie
A
A
Nivelon
A
A
Verloes
A
A
Schlessinger
D
D
Gasparini
P
P
Bonneau
D
D
Cao
A
A
Pilia
G
G
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
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