Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.

ABSTRACT:

Context

Primary ovarian insufficiency (POI) is a genetically heterogeneous condition associated with infertility and an increased risk of comorbidities. An increased number of genes implicated in DNA damage response pathways has been associated with POI as well as predisposition to cancers.

Objective

We sought to identify and characterize patients affected by POI caused by pathogenic variants in genes involved in DNA damage response during meiosis.

Setting

Study subjects were recruited at academic centers.

Patients or other participants

Individuals with a diagnosis of POI and their family members were enrolled for genetic analysis. Clinical findings, family history, and peripheral blood samples were collected.

Research design

Exome sequencing was perform

SUBMITTER: Yatsenko SA 

PROVIDER: S-EPMC9113820 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature