title: Fragile X premutation screening in women with premature ovarian failure.
abstract: We have screened 132 women with premature ovarian failure for fragile X (FRAXA) premutations. Three out of 23 (13%) pedigrees with the familial premature ovarian failure and 3/106 (3%) of women with the sporadic form of premature ovarian failure have FRAXA premutations compared with an expected prevalence of 1:590 (P=0.02). The mechanism of the association between FRAXA premutations and premature ovarian failure is unknown but as a genetic marker, FRAXA screening will be particularly valuable in predicting premature ovarian failure in some pedigrees and in the identification of families at risk of transmitting fragile X syndrome.
authors.affiliation: Department of Medicine, University College London, UK.
authors.forename: G S
authors.initials: GS
authors.lastname: Conway
authors.forename: N N
authors.initials: NN
authors.lastname: Payne
authors.forename: J
authors.initials: J
authors.lastname: Webb
authors.forename: A
authors.initials: A
authors.lastname: Murray
authors.forename: P A
authors.initials: PA
authors.lastname: Jacobs
mesh_terms: D000328:Adult; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D010053:Ovary / Q000473:pathology; D010375:Pedigree; D016649:Primary Ovarian Insufficiency / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D016601:RNA-Binding Proteins; D018911:Trinucleotide Repeats; D014960:X Chromosome / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human