Novel variants in women with premature ovarian function decline identified via whole-exome sequencing.

ABSTRACT:

Purpose

To investigate the potential etiologies of premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR).

Methods

Fourteen women with sporadic POI and 6 women with DOR were enrolled. We used whole-exome sequencing (WES) and bioinformatics analysis to identify variants in a subset of 599 selected POI candidate genes. The identified genes were subjected to gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment and protein-protein interaction (PPI) network analyses to uncover key genes and pathways.

Results

Among the 20 patients, 79 heterozygous variants were detected in 49 genes, which were classified as "likely pathogenic" or "variants of uncertain significance" according to the guidelines of the American College of Medica

SUBMITTER: Tang R 

PROVIDER: S-EPMC7550486 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature