First Report of Arg587Cys Mutation of Notch3 Gene in Two Chinese Families with CADASIL.
OBJECTIVE
To explore Notch3 mutation sites of Chinese patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).


METHODS
Direct sequencing of all exons in Notch3 gene was performed on 12 unrelated suspected CADASIL cases from mainland China.


RESULTS
A missense p.Arg587Cys (1759C>T) mutation in exon 11 was identified in 2 patients through genetic analysis.


CONCLUSIONS
Chinese patients with CADASIL of R587C mutation in exon 11 was firstly reported.
Department of Neurology, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, People's Republic of China. Electronic address: youjs73@163.com.
Jinsong
J
You
Department of Neurology, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, People's Republic of China.
Shaojun
S
Liao
Department of Neurology, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, People's Republic of China.
Foming
F
Zhang
Department of Neurology, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, People's Republic of China.
Zhaohui
Z
Ma
Department of Neurology, The Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, People's Republic of China.
Guifu
G
Li
D044466:Asian People / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging; D046589:CADASIL / Q000000981:diagnostic imaging / Q000235:genetics*; D002681:China; D005091:Exons; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D000071656:Receptor, Notch3 / Q000235:genetics*
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3
CADASIL; Notch3 gene; mutations; stroke