title: Foxl-2 in gonad development and pathology.
abstract: The Foxl-2 gene is involved in eyelid and ovary development. Mutations can lead to a shortened protein and malformations such as BPES associated or not to POF. Forkhead point mutation C134W is a marker of adult type granulosa cell tumors only. Foxl-2 dysregulation is also present in DSD and DSD associated tumors such as Gonadoblastoma and gonadoblastoma like intratubular undetermined germ cell neoplasia. A similar spectrum of pathology involvement is also found for WT1 and RET and gives a new insight into the relationship between development, malformations and oncogenesis.
authors.affiliation: Faculte de medicine, Universite Descartes, Paris V, France.
authors.forename: F
authors.initials: F
authors.lastname: Jaubert
authors.forename: L
authors.initials: L
authors.lastname: Galmiche
authors.forename: S
authors.initials: S
authors.lastname: Lortat-Jacob
authors.forename: J C
authors.initials: JC
authors.lastname: Fournet
authors.forename: M
authors.initials: M
authors.lastname: Fellous
mesh_terms: D000328:Adult; D005124:Eye Abnormalities / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics* / Q000378:metabolism*; D018238:Gonadoblastoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male; D016649:Primary Ovarian Insufficiency / Q000235:genetics / Q000378:metabolism / Q000473:pathology
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors