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 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.

Methods

The allelic score was determined using a formula previously described by our group. The impact of each allelic score on age at amenorrhea

SUBMITTER: Rodrigues B 

PROVIDER: S-EPMC11191145 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature