Open AccessNext-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease
Author(s) -
Xiaoyan Huang,
Minglei Tian,
Jiankang Li,
Ling Cui,
Min Li,
Jianguo Zhang
Publication year - 2017
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_442_17
Subject(s) - sanger sequencing , genetics , missense mutation , retinitis pigmentosa , biology , mutation , gene , dna sequencing , candidate gene
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.