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Article

Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women.

Human reproduction (Oxford, England) - 1 Jun 2026

Morbey Emily J, Day Felix R, Wright Daniel J, Murzynowski Jack R A, McGlacken-Byrne Sinead M, Murray Anna, Ong Ken K, Perry John R B

Abstract excerpt

STUDY QUESTION: Does FMR1 repeat length confer clinically meaningful predictive value for premature ovarian insufficiency (POI)? SUMMARY ANSWER: FMR1 repeat length increases POI risk from ∼36 repeats onward but has limited diagnostic utility compared with a polygenic score for menopause timing. WHAT IS KNOWN ALREADY: FMR1 premutation carriers (≥55 repeats) are reported to have high risk of Fragile-X Associated...

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Identifiers

PMID: 42001465
DOI: 10.1093/humrep/deag061
PMCID: PMC13231448

Genes

FMR1
RAD52

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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