Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve

Lisa M. Pastore; Steven L. Young; Valerie L. Baker; Logan B. Karns; Christopher D. Williams; Lawrence M. Silverman

doi:10.1177/1933719112446074

Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve

Lisa M. Pastore, Steven L. Young, Valerie L. Baker, Logan B. Karns, Christopher D. Williams, Lawrence M. Silverman

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1226-1231
Number of pages	6
Journal	Reproductive Sciences
Volume	19
Issue number	11
DOIs	https://doi.org/10.1177/1933719112446074
State	Published - Nov 2012
Externally published	Yes

Keywords

FMR1
FXPOI
diminished ovarian reserve
epidemiology
female infertility
trinucleotide repeats

ASJC Scopus subject areas

Obstetrics and Gynecology

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10.1177/1933719112446074

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title = "Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve",

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.",

keywords = "FMR1, FXPOI, diminished ovarian reserve, epidemiology, female infertility, trinucleotide repeats",

author = "Pastore, {Lisa M.} and Young, {Steven L.} and Baker, {Valerie L.} and Karns, {Logan B.} and Williams, {Christopher D.} and Silverman, {Lawrence M.}",

note = "Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: supported by the Eunice K. Shriver National Center for Child Health and Human Development at the National Institutes of Health (grant R03 HD052768 to LMP). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.",

year = "2012",

month = nov,

doi = "10.1177/1933719112446074",

language = "English (US)",

volume = "19",

pages = "1226--1231",

journal = "Reproductive Sciences",

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TY - JOUR

T1 - Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve

AU - Pastore, Lisa M.

AU - Young, Steven L.

AU - Baker, Valerie L.

AU - Karns, Logan B.

AU - Williams, Christopher D.

AU - Silverman, Lawrence M.

N1 - Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: supported by the Eunice K. Shriver National Center for Child Health and Human Development at the National Institutes of Health (grant R03 HD052768 to LMP). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

PY - 2012/11

Y1 - 2012/11

N2 - 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.

AB - 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.

KW - FMR1

KW - FXPOI

KW - diminished ovarian reserve

KW - epidemiology

KW - female infertility

KW - trinucleotide repeats

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Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve

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