Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency.

ABSTRACT:

Purpose

The etiology of premature ovarian insufficiency (POI) is heterogeneous, and genetic factors account for 20-25% of the patients. The primordial follicle pool is determined by the meiosis process, which is initiated by programmed DNA double strand breaks (DSB) and homologous recombination. The objective of the study is to explore the role of DSB formation genes in POI pathogenesis.

Methods

Variants in DSB formation genes were analyzed from a database of exome sequencing in 1,030 patients with POI. The pathogenic effects of the potentially causative variants were verified by further functional studies.

Results

Three pathogenic heterozygous variants in PRDM9 and two in ANKRD31 were identified in seven patients. Functional studies showed the variants in PRDM9 impai

SUBMITTER: Wang Y 

PROVIDER: S-EPMC8629753 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature