Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

ABSTRACT:

Objective

To investigate the genetic cause of nonobstructive azoospermia (NOA) in a consanguineous Turkish family through homozygosity mapping followed by targeted exon/whole-exome sequencing to identify genetic variations.

Design

Whole-exome sequencing (WES).

Setting

Research laboratory.

Patient(s)

Two siblings in a consanguineous family with NOA.

Intervention(s)

Validating all variants passing filter criteria with Sanger sequencing to confirm familial segregation and absence in the control population.

Main outcome measure(s)

Discovery of a mutation that could potentially cause NOA.

Result(s)

A novel nonsynonymous mutation in the neuronal PAS-2 domain (NPAS2) was identified in a consanguineous family from Turkey. This mutation in exon 14 (

SUBMITTER: Ramasamy R 

PROVIDER: S-EPMC4522373 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature