Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.
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.
De Baere
Elfride
E
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Copelli
Silvia
S
Caburet
Sandrine
S
Laissue
Paul
P
Beysen
Diane
D
Christin-Maitre
Sophie
S
Bouchard
Philippe
P
Veitia
Reiner
R
Fellous
Marc
M
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
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors