Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.

ABSTRACT:

Context

The etiology of primary ovarian insufficiency (POI) remains unknown in most cases.

Objective

We sought to identify the genes causing POI.

Design

The study was a familial genetic study.

Setting

The study was performed at two academic institutions.

Patients

We identified a consanguineous Yemeni family in which four daughters had POI. A brother had azoospermia.

Intervention

DNA was subjected to whole genome sequencing. Shared regions of homozygosity were identified using Truploidy and prioritized using the Variant Annotation, Analysis, and Search Tool with control data from 387 healthy subjects. Imaging and quantification of protein localization and mitochondrial function were examined in cell lines.

Main outcome

Homozygous recessive g

SUBMITTER: Al-Agha AE 

PROVIDER: S-EPMC5800840 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature