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The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations
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
2015-07-15
DOI10.1016/j.jns.2015.04.047
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
WOS记录号WOS:000356978600011
项目编号81471185 ; 2011ZX09307-001-07
资助机构National Natural Science Foundation of China ; Ministry of Science and Technology of China
引用统计
被引频次:9[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/66824
专题北京大学第一临床医学院_神经内科
北京大学第一临床医学院_医学影像科
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
推荐引用方式
GB/T 7714
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.
APA Liu, Xiao.,Zuo, Yuehuan.,Sun, Wei.,Zhang, Wei.,Lv, He.,...&Wang, Zhaoxia.(2015).The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations.JOURNAL OF THE NEUROLOGICAL SCIENCES,354(1-2),63-69.
MLA Liu, Xiao,et al."The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations".JOURNAL OF THE NEUROLOGICAL SCIENCES 354.1-2(2015):63-69.
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