title: Association between idiopathic premature ovarian failure and fragile X premutation.
abstract: A total of 106 women affected by premature ovarian failure (POF) were evaluated for fragile X (FRAXA) premutation. The POF patients were classified as having a familial condition (33 women), at least one relative with early menopause (12 women), or a sporadic condition (61 women). The FRAXA premutation was only detected in patients with familial (four out of 33) or sporadic POF (two out of 61). In general, the results obtained indicated that the prevalence [six out of 106, 6%, 95% confidence interval (CI) 3-11%] of FRAXA premutation is significantly higher in women affected by POF than expected (P = 1.24x10(-3)), suggesting a phenotype consequence of the premutation alleles. This relationship is more convincingly derived from the observation in two analysed pedigrees of a co-segregation between FRAXA and POF. These findings suggest a possible involvement of premutated alleles in ovarian failure, and indicate the utility of POF families screening for FRAXA premutation in order to prevent the transmission of mental retardation syndrome.
authors.affiliation: Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti 3/5, 20133 Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Marozzi
authors.forename: W
authors.initials: W
authors.lastname: Vegetti
authors.forename: E
authors.initials: E
authors.lastname: Manfredini
authors.forename: M G
authors.initials: MG
authors.lastname: Tibiletti
authors.forename: G
authors.initials: G
authors.lastname: Testa
authors.forename: P G
authors.initials: PG
authors.lastname: Crosignani
authors.forename: E
authors.initials: E
authors.lastname: Ginelli
authors.forename: R
authors.initials: R
authors.lastname: Meneveri
authors.forename: L
authors.initials: L
authors.lastname: Dalprà
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008593:Menopause / Q000235:genetics; D009035:Mothers; D009154:Mutation; D010375:Pedigree; D016649:Primary Ovarian Insufficiency / Q000235:genetics*