北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 神经内科  > 期刊论文
学科主题: 临床医学
题名:
The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations
作者: Liu, Xiao1; Zuo, Yuehuan1; Sun, Wei1; Zhang, Wei1; Lv, He1; Huang, Yining1; Xiao, Jiangxi2; Yuan, Yun1; Wang, Zhaoxia1
关键词: CADASIL ; CADASIL scale ; NOTCH3 gene ; Novel mutation ; Mainland China
刊名: JOURNAL OF THE NEUROLOGICAL SCIENCES
发表日期: 2015-07-15
DOI: 10.1016/j.jns.2015.04.047
卷: 354, 期:1-2, 页:63-69
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Neurosciences
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: AUTOSOMAL-DOMINANT ARTERIOPATHY ; SUBCORTICAL INFARCTS ; LEUKOENCEPHALOPATHY CADASIL
英文摘要:

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small artery disease caused by NOTCH3 gene mutation. Here we report clinical, pathological and genetic profiles of 29 newly-diagnosed CADASIL patients, evaluation of the CADASIL scale in Chinese CADASIL patients, and reanalysis of all reported mainland Chinese patients with identified NOTCH3 gene mutation. We found two novel mutations (p.C134G and p.C291Y) and 13 reported NOTCH3 mutations in the newly-diagnosed group. CADASIL scale score was less than the cutoff score in 19 of 53 Chinese patients with NOTCH3 mutation, generating only a sensitivity of 64.1%. At the time of study, the total number of genetically confirmed CADASIL cases reached 158 from 97 unrelated mainland Chinese families, with 9/97 (9.3%) sporadic patients. The NOTCH3 gene mutation profile showed 43 mutations, with hotspots in exon 4, followed by exon 3. The considerable variability in onset age and CADASIL scale score in patients carrying the same NOTCH3 missense mutation suggested no obvious phenotype-genotype correlation. In conclusion, we report two novel mutations which expand the NOTCH3 mutational spectrum. Exons 4 and 3 are hotspots in mainland Chinese patients with NOTCH3 mutation. The low sensitivity of CADASIL scale in our patients group indicated that the CADASIL scale should be refined according to the clinical characteristics of Chinese CADASIL patients when used in Chinese populations. (C) 2015 Elsevier B.V. All rights reserved.

语种: 英语
所属项目编号: 81471185 ; 2011ZX09307-001-07
项目资助者: National Natural Science Foundation of China ; Ministry of Science and Technology of China
WOS记录号: WOS:000356978600011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/66824
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 1.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Dept Radiol, Beijing 100034, Peoples R China

Recommended Citation:
Liu, Xiao,Zuo, Yuehuan,Sun, Wei,et al. The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES,2015,354(1-2):63-69.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Liu, Xiao]'s Articles
[Zuo, Yuehuan]'s Articles
[Sun, Wei]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Liu, Xiao]‘s Articles
[Zuo, Yuehuan]‘s Articles
[Sun, Wei]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace