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

Reproductive Sciences
Lisa M PastoreLawrence M Silverman

Abstract

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

References

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Citations

May 21, 2014·Journal of Assisted Reproduction and Genetics·Alexis D GreeneJames H Segars
Jun 19, 2014·Journal of Assisted Reproduction and Genetics·Lisa M PastoreSteven L Young
Mar 26, 2016·Reproductive Biomedicine Online·Scott J MorinRichard T Scott
Sep 28, 2015·Journal of Assisted Reproduction and Genetics·Stephanie L F GustinValerie L Baker
Sep 16, 2014·Frontiers in Genetics·Norbert GleicherDavid H Barad
May 18, 2016·Journal of Assisted Reproduction and Genetics·Bat-Sheva L MaslowClaudio A Benadiva
Dec 17, 2016·Genes·Maitane BarasoainIsabel Arrieta
Jan 16, 2014·Menopause : the Journal of the North American Menopause Society·Jennie K KlineDorothy Warburton
Oct 19, 2019·Journal of Assisted Reproduction and Genetics·Deepika Delsa DeanSrinivasan Muthuswamy
Feb 29, 2020·Climacteric : the Journal of the International Menopause Society·R TangQ Yu
Jul 10, 2018·Reproductive Biology and Endocrinology : RB&E·Julia RehnitzAriane Germeyer
Jun 10, 2017·Reproductive Biology and Endocrinology : RB&E·Alice J ShapiroVitaly A Kushnir
May 20, 2016·The Tohoku Journal of Experimental Medicine·Wenjing YangFenghua Lan
Apr 14, 2019·Journal of Assisted Reproduction and Genetics·Yuting FanXiaoyan Liang
Jul 30, 2019·Artificial Cells, Nanomedicine, and Biotechnology·Jing HuangHong Jiang

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Methods Mentioned

BETA
electrophoresis
PCR

Software Mentioned

EpiInfo
SAS

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