MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.

ABSTRACT:

Objective

To assess the frequency of variants, including biallelic pathogenic variants, in minichromosome maintenance 8 (MCM8) and minichromosome maintenance 9 (MCM9), other genes related to MCM8-MCM9, and DNA damage repair (DDR) pathway in participants with primary ovarian insufficiency (POI).

Design

MCM8, MCM9, and genes encoding DDR proteins that have been implicated in reproductive aging were sequenced among POI participants.

Setting

Academic research institution.

Participants

All were diagnosed with POI prior to age 40 years and presented with elevated follicle-stimulating hormone levels.

Interventions

None.

Main outcome measures

We identified nucleotide variants in MCM8, MCM9, and genes thought to be involved in the DNA damage response pathw

SUBMITTER: Desai S 

PROVIDER: S-EPMC5413161 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature