FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea

FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea

Abstract Background Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carriers develop early ovulatory dysfunction, the reason...

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Main Authors: Bárbara Rodrigues, Vanessa Sousa, Carolyn M. Yrigollen, Flora Tassone, Olatz Villate, Emily G. Allen, Anne Glicksman, Nicole Tortora, Sarah L. Nolin, António J. A. Nogueira, Paula Jorge
Format: Article
Language:English
Published: BMC 2024-06-01
Series:Reproductive Biology and Endocrinology
Subjects:
FMR1 gene premutation
Age at amenorrhea
FMR1 allelic complexity
Fragile X-associated primary ovarian insufficiency
CGG repeats
AGG interspersion pattern
Online Access:https://doi.org/10.1186/s12958-024-01227-5

Internet

https://doi.org/10.1186/s12958-024-01227-5

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