Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

ABSTRACT:

Background and objectives

Primary ovarian insufficiency (POI) affects 1-4% of women and is associated with infertility and reduced life expectancy. Most cases are idiopathic, and a genetic alteration is often the most plausible cause. In this study, we investigated whether targeted next-generation sequencing (NGS) analysis in combination with the OvAge^© method, which integrates biochemical and ecographic parameters, can reliably identify specific genetic variants underlying the occurrence of non-syndromic primary ovarian insufficiency (nsPOI).

Methods

We enrolled 100 women with nsPOI and 200 healthy controls. A targeted NGS panel covering 72 genes potentially involved in POI was developed using Ampliseq technology (ThermoFisher Scientific). Various bioinformatic t

SUBMITTER: Veneziano C 

PROVIDER: S-EPMC12738175 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature