Novel variants associated with premature ovarian insufficiency in Russian adolescents.

ABSTRACT:

Introduction

While variants in hundreds of genes have been linked to premature ovarian insufficiency (POI), monogenic disorders account for fewer than half of idiopathic POI cases in adolescents with 46,XX karyotype. This highlights the need for the further genetic investigation across diverse populations.

Patients and methods

We recruited 63 Russian patients diagnosed with 46,XX POI before age 18. All underwent FMR1 premutation testing and whole-exome sequencing (WES). Copy number variation (CNV) analysis was conducted on WES data. Segregation studies by Sanger sequencing were performed where samples from the patients' relatives were available.

Results

We identified variants in 15 genes in 38% of the cohort, including 13 causative genes (FMR1, DCAF17

SUBMITTER: Tsabai P 

PROVIDER: S-EPMC12695569 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature