title: Screening for mutations of the FOXO4 gene in premature ovarian failure patients.
abstract: FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups.
authors.affiliation: Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Carrera 24 N° 63C-69, Bogotá, Colombia.
authors.forename: Dora Janeth
authors.initials: DJ
authors.lastname: Fonseca
authors.forename: Eliana
authors.initials: E
authors.lastname: Garzón
authors.forename: Besma
authors.initials: B
authors.lastname: Lakhal
authors.forename: Rim
authors.initials: R
authors.lastname: Braham
authors.forename: Diego
authors.initials: D
authors.lastname: Ojeda
authors.forename: Hatem
authors.initials: H
authors.lastname: Elghezal
authors.forename: Ali
authors.initials: A
authors.lastname: Saâd
authors.forename: Carlos Martín
authors.initials: CM
authors.lastname: Restrepo
authors.forename: Paul
authors.initials: P
authors.lastname: Laissue
mesh_terms: D000328:Adult; D018797:Cell Cycle Proteins; D004252:DNA Mutational Analysis; D005260:Female; D051858:Forkhead Transcription Factors; D005787:Gene Frequency; D006801:Humans; D009154:Mutation; D016366:Open Reading Frames; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D011401:Promoter Regions, Genetic; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D014416:Tunisia
chemical_list: D018797:Cell Cycle Proteins; C108803:FOXO4 protein, human; D051858:Forkhead Transcription Factors; D014157:Transcription Factors