A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease
A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease
复制标题
中国诺里病家系中 NDP 基因的新无义突变
作者：
Xia, Kun;Hu, Zhengmao;Peng, Yu;Yu, Changhong;Liu, Yalan;Mo, Xiaoyun;Li, Xiaoping;Lu, Lina;Xu, Xiaojuan
目的诺里病（Norrie disease，ND）是一种罕见的X连锁隐性遗传疾病，以先天性失明为特征，偶尔伴有智力低下和听力损失。ND是由Norrie病蛋白基因（NDP）引起的，该基因编码norrin，一种参与眼血管发育的富含半胱氨酸的蛋白质。在这里，我们报告了一个新的NDP突变，在一个中国家庭中，其中三名成员显示典型的ND症状和其他复杂的表型，如小脑萎缩，运动障碍和精神障碍。方法我们对先证者进行了广泛的临床检查，并对他的大脑进行了计算机断层扫描（CT）。此外，我们对来自先证者大家庭的26名个体进行了眼科检查、单倍型分析和NDP DNA测序。结果先证者CT扫描显示第五脑室，提示小脑萎缩。基因组扫描和单倍型分析将这种疾病追溯到染色体Xp21.1-p11.22。NDP基因的突变筛选确定了一个新的无义突变，c.343C>T，在这个区域。结论虽然最近的研究表明，多种不同的突变可以负责ND表型，需要进一步的研究，以了解负责不同的表型的NDP基因突变引起的机制。
Purpose Norrie disease (ND), a rare X-linked recessive disorder, is characterized by congenital blindness and, occasionally, mental retardation and hearing loss. ND is caused by the Norrie Disease Protein gene (NDP), which codes for norrin, a cysteine-rich protein involved in ocular vascular development. Here, we report a novel mutation of NDP that was identified in a Chinese family in which three members displayed typical ND symptoms and other complex phenotypes, such as cerebellar atrophy, motor disorders, and mental disorders. Methods We conducted an extensive clinical examination of the proband and performed a computed tomography (CT) scan of his brain. Additionally, we performed ophthalmic examinations, haplotype analyses, and NDP DNA sequencing for 26 individuals from the proband’s extended family. Results The proband’s computed tomography scan, in which the fifth ventricle could be observed, indicated cerebellar atrophy. Genome scans and haplotype analyses traced the disease to chromosome Xp21.1-p11.22. Mutation screening of the NDP gene identified a novel nonsense mutation, c.343C>T, in this region. Conclusions Although recent research has shown that multiple different mutations can be responsible for the ND phenotype, additional research is needed to understand the mechanism responsible for the diverse phenotypes caused by mutations in the NDP gene.
登录
查看更多内容
DOI：
10.1007/3-540-29623-9_6998
发表时间：
2021
期刊：
A Quick Guide to Pediatric Retina
影响因子：
--
作者：
W. Benson
通讯作者：
W. Benson
DOI：
10.32388/qze4co
发表时间：
2020-02
期刊：
Definitions
影响因子：
--
作者：
N. Baharivand;E. Heidari;Soleimanian Gh.R.
通讯作者：
N. Baharivand;E. Heidari;Soleimanian Gh.R.
影响因子：
4.4
作者：
Kondo, Hiroyuki;Qin, Minghui;Hayashi, Kenshi
通讯作者：
Hayashi, Kenshi
影响因子：
64.5
作者：
Xu, Q;Wang, YS;Nathans, J
通讯作者：
Nathans, J
影响因子：
--
作者：
C. Canny;G. Oliver
通讯作者：
C. Canny;G. Oliver