POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women.

ABSTRACT:

Context

Primary ovarian insufficiency (POI) results from a premature loss of oocytes, causing infertility and early menopause. The etiology of POI remains unknown in a majority of cases.

Objective

To identify candidate genes in families affected by POI.

Design

This was a family-based genetic study.

Setting

The study was performed at two academic institutions.

Patients and other participants

A family with four generations of women affected by POI (n = 5). Four of these women, three with an associated autoimmune diagnosis, were studied. The controls (n = 387) were recruited for health in old age.

Intervention

Whole-genome sequencing was performed.

Main outcome measure

Candidate genes were identified by comparing gene mutations in three family

SUBMITTER: Moriwaki M 

PROVIDER: S-EPMC5650244 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature