Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.

ABSTRACT:

Purpose

Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND.

Methods

To identify the causative gene, next-generation sequencing based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members using Sanger sequencing.

Results

We identified a novel missense variant (c.314C>A) located within the NDP gene. The mutation cosegregated within all a

SUBMITTER: Huang X 

PROVIDER: S-EPMC5700585 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature