Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.

ABSTRACT:

Background

Premature ovarian insufficiency refers to the loss of ovarian function before 40 years of age. The etiology is heterogeneous, and genetic factors account for 20-25% of cases. However, how to transform genetic findings to clinical molecular diagnose remains a challenge. To identify potential causative variations for POI, a next generation sequencing panel with 28 known causative genes of POI was designed, and a large cohort of 500 Chinese Han patients was screened directly. Pathogenic evaluation of the identified variants and the phenotype analysis were performed according to monogenic or oligogenic variants.

Results

A total of 14.4% (72/500) of the patients carried 61 pathogenic or likely pathogenic variants in 19 of the genes in the panel. Interestingly, 58 varia

SUBMITTER: Luo W 

PROVIDER: S-EPMC9930292 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature