Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size

Approximately 20-30% of women with an FMR1 premutation experience fragile X-associated primary ovarian insufficiency (FXPOI); however, current risk estimates based on repeat size only identify women with the midrange of repeats to be at the highest risk. To better understand the risk by repeat size,...

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Bibliographic Details
Published in:Genetics in medicine 2021-09, Vol.23 (9), p.1648-1655
Main Authors: Allen, Emily Graves, Charen, Krista, Hipp, Heather S, Shubeck, Lisa, Amin, Ashima, He, Weiya, Nolin, Sarah L, Glicksman, Anne, Tortora, Nicole, McKinnon, Bonnie, Shelly, Katharine E, Sherman, Stephanie L
Format: Article
Language:English
Subjects:
Age
Ataxia
Female
Fertility
Fragile X Mental Retardation Protein - genetics
Fragile X Syndrome - genetics
Humans
Infertility
Interviews
Menopause
Menopause, Premature
Menstruation
Ovaries
Primary Ovarian Insufficiency - genetics
Questionnaires
Variables
Womens health
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Summary:Approximately 20-30% of women with an FMR1 premutation experience fragile X-associated primary ovarian insufficiency (FXPOI); however, current risk estimates based on repeat size only identify women with the midrange of repeats to be at the highest risk. To better understand the risk by repeat size, we collected self-reported reproductive histories on 1,668 women and divided them into high-resolution repeat size bins of ~5 CGG repeats to determine a more accurate risk for FXPOI in relation to CGG repeat length. As previously reported, women with 70-100 CGG repeats were at the highest risk for FXPOI using various statistical models to compare average age at menopause and risk of FXPOI, with women with 85-89 repeats being at the highest risk. Importantly, women with 120 repeats did not have a significantly increased risk for FXPOI compared to women with
ISSN:1098-3600
1530-0366
DOI:10.1038/s41436-021-01177-y