Skip Navigation


Hum. Reprod. Advance Access originally published online on June 22, 2007
Human Reproduction 2007 22(8):2142-2152; doi:10.1093/humrep/dem148
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF ) Freely available
Right arrow All Versions of this Article:
22/8/2142    most recent
dem148v1
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (16)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Allen, E.G.
Right arrow Articles by Sherman, S.L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Allen, E.G.
Right arrow Articles by Sherman, S.L.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

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

E.G. Allen1,4, A.K. Sullivan1, M. Marcus2, C. Small2, C. Dominguez3, M.P. Epstein1, K. Charen1, W. He1, K.C. Taylor2 and S.L. Sherman1

1 Department of Human Genetics, Emory University 2 Department of Epidemiology, Rollins School of Public Health, Emory University 3 Department of Gynecology and Obstetrics, School of Medicine, Emory University

4 Correspondence address. 615 Michael Street, Suite 301, Atlanta, GA 30322, USA. Tel: +1-404-778-8473; Fax: +1-404-727-3949; E-mail: egraves{at}genetics.emory.edu

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.

Key words: FMRP/infertility/menopause/RNA toxic effect/trinucleotide

Submitted on December 18, 2006; resubmitted on May 1, 2007; accepted on May 8, 2007.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum ReprodHome page
J. Rohr, E.G. Allen, K. Charen, J. Giles, W. He, C. Dominguez, and S.L. Sherman
Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study
Hum. Reprod., May 1, 2008; 23(5): 1220 - 1225.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.