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. 2014 Dec;165B(8):705-11.
doi: 10.1002/ajmg.b.32277. Epub 2014 Oct 25.

Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions

Marsha R Mailick  1 , Jinkuk Hong, Jan Greenberg, Leann Smith, Stephanie Sherman
Affiliations

Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions

Marsha R Mailick et al. Am J Med Genet B Neuropsychiatr Genet. 2014 Dec.

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.

Keywords: FMR1 CGG repeats; FXPOI; anxiety; depression; menopause; premature ovarian failure; premutation.

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Figures

Fig. 1
Fig. 1. Age at menopause by CGG repeat length
See this image and copyright information in PMC

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