title: Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure.
abstract: Premature ovarian failure (POF) is a heterogeneous disorder whose aetiology is still unknown. Recently, the autosomal FOXL2 gene, highly expressed in the adult ovary, has been correlated with the disorder. FOXL2 mutations, causing a truncation of the FOXL2 protein in the forkhead domain or in the poly-Ala tract lead to blepharophimosis-ptosis-epicanthus-inversus syndrome associated with POF (BPES I). Interestingly, in two out of 70 idiopathic POF patients, a 30 bp deletion (898-927del) and a missense mutation (1009T-->A) were identified. To further evaluate the correlation between POF and FOXL2 mutations, 120 phenotypically normal women affected by POF were analysed by direct sequencing of the FOXL2 coding region. The analysis did not reveal any mutation in the 240 analysed chromosomes, indicating that mutations in the FOXL2 coding region are rarely associated with non-syndromic POF.
authors.affiliation: Department of Biology and Genetics, Medical Faculty and First Department of Obstetrics and Gynaecology, University of Milan, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Bodega
authors.forename: C
authors.initials: C
authors.lastname: Porta
authors.forename: P G
authors.initials: PG
authors.lastname: Crosignani
authors.forename: E
authors.initials: E
authors.lastname: Ginelli
authors.forename: A
authors.initials: A
authors.lastname: Marozzi
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D006801:Humans; D009154:Mutation; D010641:Phenotype; D016649:Primary Ovarian Insufficiency / Q000209:etiology* / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D014157:Transcription Factors