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

• Main Authors: Bárbara Rodrigues (Author), Vanessa Sousa (Author), Carolyn M. Yrigollen (Author), Flora Tassone (Author), Olatz Villate (Author), Emily G. Allen (Author), Anne Glicksman (Author), Nicole Tortora (Author), Sarah L. Nolin (Author), António J. A. Nogueira (Author), Paula Jorge (Author)
• Format: Book
• Published: BMC, 2024-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...