title: Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene.
abstract: Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years. Primary ovarian insufficiency (POI) refers to ovarian dysfunction defined as irregular menses and elevated gonadotrophin levels before or at the age of 40 years. The etiology of POI is unknown but several genes have been reported as being of significance. Thefragile X mental retardation 1gene (FMR1) is one of the most important genes associated with POI. TheFMR1gene contains a highly polymorphic CGG repeat in the 5' untranslated region of exon 1. Four allelic forms have been defined with respect to CGG repeat length and instability during transmission. Normal (5-44 CGG) alleles are usually transmitted from parent to offspring in a stable manner. The full mutation form consists of over 200 repeats, which induces hypermethylation of theFMR1gene promoter and the subsequent silencing of the gene, associated with Fragile X Syndrome (FXS). Finally,FMR1intermediate (45-54 CGG) and premutation (55-200 CGG) alleles have been principally associated with two phenotypes, fragile X tremor ataxia syndrome (FXTAS) and fragile X primary ovarian insufficiency (FXPOI).
authors.affiliation: Department of Genetics, Physical Anthropology and Animal physiology, Faculty of Science and Technology, University of the Basque Country, Bilbao, 48940, Spain. maitane.bhf@gmail.com.
authors.forename: Maitane
authors.initials: M
authors.lastname: Barasoain
authors.affiliation: Department of Medical-Surgical Specialities, Faculty of Medicine, University of the Basque Country, Bilbao, 48940, Spain. gbarrenetxea@reproduccionbilbao.es.|Reproduction Bilbao, Bilbao, 48014, Spain. gbarrenetxea@reproduccionbilbao.es.
authors.forename: Gorka
authors.initials: G
authors.lastname: Barrenetxea
authors.affiliation: Department of Genetics, Physical Anthropology and Animal physiology, Faculty of Science and Technology, University of the Basque Country, Bilbao, 48940, Spain. iratxe.huerta@medikosta.com.|Genetic Counseling and Prenatal Diagnosis Laboratory GENETIC, Bilbao, 48014, Spain. iratxe.huerta@medikosta.com.
authors.forename: Iratxe
authors.initials: I
authors.lastname: Huerta
authors.affiliation: Department of Genetics, Physical Anthropology and Animal physiology, Faculty of Science and Technology, University of the Basque Country, Bilbao, 48940, Spain. mertxe.telez@medikosta.com.|Genetic Counseling and Prenatal Diagnosis Laboratory GENETIC, Bilbao, 48014, Spain. mertxe.telez@medikosta.com.
authors.forename: Mercedes
authors.initials: M
authors.lastname: Télez
authors.affiliation: Cooperativa de Ensino Superior Politecnico e Universitario (CESPU), Porto, 4760-409, Portugal. mbegona.criado@ipsn.cespu.pt.
authors.forename: Begoña
authors.initials: B
authors.lastname: Criado
authors.affiliation: Department of Genetics, Physical Anthropology and Animal physiology, Faculty of Science and Technology, University of the Basque Country, Bilbao, 48940, Spain. mariaisabel.arrieta@ehu.eus.
authors.forename: Isabel
authors.initials: I
authors.lastname: Arrieta
keywords: FMR1; POI; menopause