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. 2007 Aug;22(8):2142-52.
doi: 10.1093/humrep/dem148. Epub 2007 Jun 22.

Examination of reproductive aging milestones among women who carry the FMR1 premutation

E G Allen  1 , A K Sullivan, M Marcus, C Small, C Dominguez, M P Epstein, K Charen, W He, K C Taylor, S L Sherman
Affiliations

Examination of reproductive aging milestones among women who carry the FMR1 premutation

E G Allen et al. Hum Reprod. 2007 Aug.

Abstract

Background: The fragile X premutation is characterized by a large CGG repeat track (55-199 repeats) in the 5' UTR of the FMR1 gene. This X-linked mutation leads to an increased risk for premature ovarian failure; interestingly, the association of repeat size with risk is non-linear. We hypothesize that the premutation-associated ovarian insufficiency is due to a diminished oocyte pool and examined reproductive aging milestones by repeat size group to determine if the same non-linear association is observed.

Methods: We analyzed cross-sectional reproductive history questionnaire data from 948 women with a wide range of repeat sizes.

Results: We have confirmed the non-linear relationship among premutation carriers for ovarian insufficiency. The mid-range repeat size group (80-100 repeats), not the highest group, had an increased risk for: altered cycle traits (shortened cycle length, irregular cycles and skipped cycles), subfertility and dizygotic twinning. Smoking, a modifiable risk, decreased the reproductive lifespan of women with the premutation by about 1 year, similar to its effect on non-carriers. As expected, premutation carriers were found to be at an increased risk for osteoporosis.

Conclusions: Possible molecular mechanisms to explain the non-linear repeat size risk for ovarian insufficiency are discussed.

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