新一代测序揭示了一个患有诺里病的中国家庭中的一种新的NDP基因突变。
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.
作者信息
Huang Xiaoyan, Tian Mao, Li Jiankang, Cui Ling, Li Min, Zhang Jianguo
机构信息
BGI Education Center, University of Chinese Academy of Sciences; BGI-Shenzhen, Shenzhen 518083; Department of Obstetrics, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530021, China.
Department of Ophthalmology, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530021, China.
出版信息
Indian J Ophthalmol. 2017 Nov;65(11):1161-1165. doi: 10.4103/ijo.IJO_442_17.
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 affected individuals in the family and was not found in unaffected members. By happenstance, in this family, we also detected a known pathogenic variant of retinitis pigmentosa in a healthy individual.
CONCLUSION
c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of ND.
目的
诺里病（ND）是一种罕见的X连锁遗传病，其主要症状为先天性失明和白瞳症。据报道，ND由NDP基因突变引起。尽管已报道了许多NDP基因突变，但许多患者的遗传病因仍不清楚。本研究旨在调查一个具有典型ND症状的五代家系中的遗传缺陷。
方法
为鉴定致病基因，进行了基于二代测序的目标捕获测序。使用桑格测序法在其他家庭成员中对候选变异进行分离分析。
结果
我们在NDP基因中鉴定出一个新的错义变异（c.314C>A）。该突变在家族中所有受影响个体中共同分离，未在未受影响成员中发现。偶然的是，在这个家族中，我们还在一名健康个体中检测到一种已知的视网膜色素变性致病变异。
结论
NDP基因的c.314C>A突变是一种新突变，拓宽了ND的遗传谱。
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