ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.

ABSTRACT:

Background

Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. A genetic cause for POI can be found in up to 30% of women, elucidating key roles for these genes in human ovary development.

Objective

We aimed to identify the genetic mechanism underlying early-onset POI in 2 sisters from a consanguineous pedigree.

Methods

Genome sequencing and variant filtering using an autosomal recessive model was performed in the 2 affected sisters and their unaffected family members. Quantitative reverse transcriptase PCR (qRT-PCR) and RNA sequencing were used to study the expression of key genes at critical stages of human fetal gonad development (Carnegie Stage 22/23, 9 weeks post conception (wpc), 11 wpc, 15/16 wpc, 19/

SUBMITTER: McGlacken-Byrne SM 

PROVIDER: S-EPMC8684494 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature