title: Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.
abstract: In a sample of post-menopausal premutation carrier mothers of children with the full mutation of fragile X syndrome (n = 88), this study examined the co-occurrence of the reproductive and psychiatric phenotypes associated with FMR1 premutations. Mean age at menopause was 43.1 years, and 35.2% of premutation carriers reported cessation of menses prior to age 40 (premature ovarian failure), but only 18% of carriers had been medically diagnosed by a physician as having Fragile X-associated Primary Ovarian Insufficiency. There was a significant curvilinear association between CGG repeat length and age at menopause, with women who had mid-range repeats having the earliest menopause, similar to the pattern that has been found for the psychiatric phenotype of the FMR1 premutation.
authors.affiliation: Waisman Center, University of Wisconsin-Madison, Wisconsin.
authors.forename: Marsha R
authors.initials: MR
authors.lastname: Mailick
authors.forename: Jinkuk
authors.initials: J
authors.lastname: Hong
authors.forename: Jan
authors.initials: J
authors.lastname: Greenberg
authors.forename: Leann
authors.initials: L
authors.lastname: Smith
authors.forename: Stephanie
authors.initials: S
authors.lastname: Sherman
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008593:Menopause / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: FMR1 CGG repeats; FXPOI; anxiety; depression; menopause; premature ovarian failure; premutation