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The FMR1 gene, infertility, and reproductive decision-making: a review

Published on Jul 7, 2014in Frontiers in Genetics3.52
· DOI :10.3389/fgene.2014.00195
Lisa M. Pastore17
Estimated H-index: 17
(UVA: University of Virginia),
Joshua Johnson16
Estimated H-index: 16
(Yale University)
Abstract
The strongest association between FMR1 and the ovary in humans is the increased risk of premature ovarian failure (POF) in women who carry the premutation level of CGG repeats (55–199 CGGs). Research on the FMR1 gene has extended to other endpoints of relevance in the OB/GYN setting for women, including infertility and ovarian hormones. After reviewing the nomenclature changes that have occurred in recent years, this article reviews the evidence linking the length of the FMR1 repeat length to fertility and ovarian hormones (follicle stimulating hormone and anti-mullerian hormone as the primary methods to assess ovarian reserve in clinical settings). The literature is inconsistent on the association between the FMR1 trinucleotide repeat length and infertility. Elevated levels of follicle stimulating hormone have been found in women who carry the premutation; however the literature on the relationship between anti-mullerian hormone and the CGG repeat length are too disparate in design to make a summary statement. This article considers the implications of two transgenic mouse models (FXPM 130R and YAC90R) for theories on pathogenesis related to ovarian endpoints. Given the current screening/testing recommendations for reproductive age females and the variability of screening protocols in clinics, future research is recommended on pretest and posttest genetic counseling needs. Future research is also needed on ovarian health measurements across a range of CGG repeat lengths in order to interpret FMR1 test results in reproductive age women; the inconsistencies in the literature make it quite challenging to advise women on their risks related to FMR1 repeat length.
  • References (67)
  • Citations (21)
References67
Newest
#1Lisa M. Pastore (UVA: University of Virginia)H-Index: 17
#2Timothy L. McMurry (UVA: University of Virginia)H-Index: 17
Last.Steven L. Young (UNC: University of North Carolina at Chapel Hill)H-Index: 28
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#1Lisa M. Pastore (UVA: University of Virginia)H-Index: 17
#2Logan B. Karns (UVA: University of Virginia)H-Index: 6
Last.Nancy Callanan (UNCG: University of North Carolina at Greensboro)H-Index: 5
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#1Seung-Ah Choe (Hamchoon Women's Clinic)H-Index: 6
#2Ki Chul Kim (Hamchoon Women's Clinic)H-Index: 8
Last.Byung Chul Jee (SNU: Seoul National University)H-Index: 25
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#1Maitane Barasoain (UPV/EHU: University of the Basque Country)H-Index: 4
#2G. BarrenetxeaH-Index: 7
Last.Isabel Arrieta (UPV/EHU: University of the Basque Country)H-Index: 10
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#1Heidi Carmen Howard (University of Toulouse)H-Index: 23
#2E Swinnen (Katholieke Universiteit Leuven)H-Index: 1
Last.Pascal Borry (Katholieke Universiteit Leuven)H-Index: 34
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Cited By21
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#1Lisa M. Pastore (SBU: Stony Brook University)H-Index: 17
#2Mindy Sue Christianson (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 10
Last.James H. Segars (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 7
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#1Sarit Avraham (Tel Aviv Sourasky Medical Center)H-Index: 1
#2Benny Almog (Tel Aviv Sourasky Medical Center)H-Index: 17
Last.Foad Azem (Tel Aviv Sourasky Medical Center)H-Index: 21
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#1Cuiling Lu (PKU: Peking University)H-Index: 8
#2Rong Li (PKU: Peking University)H-Index: 10
Last.Xiumei Zhen (PKU: Peking University)H-Index: 3
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#1David L. Nelson (BCM: Baylor College of Medicine)H-Index: 73
#2Michael R. Santoro (Emory University)H-Index: 2
Last.Stephen T. Warren (Emory University)H-Index: 80
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