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Elevated Prevalence of 35-44 FMR1 Trinucleotide Repeats in Women With Diminished Ovarian Reserve

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Abstract

Introduction

Fragile X premutations are associated with primary ovarian insufficiency when the patient presents with amenorrhea, but the fragile X mental retardation 1 (FMR1) CGG repeat count among cycling women with low ovarian reserve (diminished ovarian reserve [DOR]) is not yet established.

Patients and Methods

Sixty-two infertile DOR patients were recruited from 4 US private and academic fertility centers.

Results

The prevalence of 35-44 FMR1 CGG repeats was 14.5%. Compared with the general female population estimate from the literature, infertile women with DOR were more likely to have 35-44 FMR1 CGG repeats (14.5% and 3.9%, respectively, P = .0003). Similar findings were noted by 5-repeat bandwidth: 35-39 CGG repeats (9.7% DOR vs 3.2% comparison, P = .012) or 40-44 CGG repeats (4.8% DOR vs 0.7% comparison, P = .024).

Conclusions

These data suggest that CGG repeats of 35–44 may be markedly overrepresented in women with DOR, whereas the current FMR1 reference range indicates that there is no clinical phenotype with <45 CGG repeats.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, University of Virginia, PO Box 800712, 22908, Charlottesville, VA, USA

    Lisa M. Pastore PhD & Logan B. Karns CGC

  2. Department of Obstetrics and Gynecology, University of North Carolina, Charlottesville, VA, USA

    Steven L. Young MD, PhD

  3. Department of Obstetrics and Gynecology, Stanford University, Stanford, CA, USA

    Valerie L. Baker MD

  4. Reproductive Medicine and Surgery Center of Virginia, Charlottesville, VA, USA

    Christopher D. Williams MD

  5. Pathology Department, University of Virginia, Charlottesville, VA, USA

    Lawrence M. Silverman PhD

Authors
  1. Lisa M. Pastore PhD
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  2. Steven L. Young MD, PhD
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  3. Valerie L. Baker MD
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  4. Logan B. Karns CGC
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  5. Christopher D. Williams MD
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  6. Lawrence M. Silverman PhD
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Correspondence to Lisa M. Pastore PhD.

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Pastore, L.M., Young, S.L., Baker, V.L. et al. Elevated Prevalence of 35-44 FMR1 Trinucleotide Repeats in Women With Diminished Ovarian Reserve. Reprod. Sci. 19, 1226–1231 (2012). https://doi.org/10.1177/1933719112446074

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