ArticleReproductive biology and endocrinology : RB&E2024
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.
Article in Reproductive biology and endocrinology : RB&E, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women.Human reproduction (Oxford, England) · 2026Article
- The association of CGG repeat length and AGG interruption patterns on FMR1 alleles with female infertility.Frontiers in endocrinology · 2025Article
- Novel variants associated with premature ovarian insufficiency in Russian adolescents.Frontiers in endocrinology · 2025Article
- Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis.Frontiers in neuroscience · 2025Article
- Population-based FMR1 carrier screening among reproductive women.Journal of assisted reproduction and genetics · 2024Article
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Authors and funding
11 authors.
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Abstract
backgroundPremutations 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 for this incomplete penetrance is unknown. This study validated the mathematical model in premutation alleles, after assigning each allele a score representing allelic complexity. Subsequently, allelic scores were used to investigate the impact of allele complexity on age at amenorrhea for 58 premutation cases (116 alleles) previously published.
methodsThe allelic score was determined using a formula previously described by our group. The impact of each allelic score on age at amenorrhea was analyzed using Pearson's test and a contour plot generated to visualize the effect.
resultsCorrelation of allelic score revealed two distinct complexity behaviors in premutation alleles. No significant correlation was observed between the allelic score of premutation alleles and age at amenorrhea. The same lack of significant correlation was observed regarding normal-sized alleles, despite a nearly significant trend.
conclusionsOur results suggest that the use of allelic scores combination have the potential to explain female infertility, namely the development of FXPOI, or ovarian dysfunction, despite the lack of correlation with age at amenorrhea. Such a finding is of great clinical significance for early identification of females at risk of ovulatory dysfunction, enhancement of fertility preservation techniques, and increasing the probability for a successful pregnancy in females with premutations. Additional investigation is necessary to validate this hypothesis.
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