title: Identification of a known mutation in Notch 3 in familiar CADASIL in China.
abstract: BACKGROUND
  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to recurrent ischemic stroke and vascular dementia. Numerous mutations in the 23 exons of the NOTCH3 gene have been reported to cause CADASIL in Caucasian populations, but the full spectrum of genetic changes leading to this disease is yet to be known and, especially, very few reports are available on CADASIL in Asian populations.
  
  
  RESULTS
  We genotyped members of a 5-generational Han Chinese family with CADASIL patients and identified an R133C mutation in the NOTCH3 gene. Clinical analysis demonstrated that the penetrance of the mutation was not complete. Five of the mutation carriers, not exposed to the known vascular risk factors, did not show any clinical feature of CADASIL, suggesting the importance of environmental factors to the development of this disease.
  
  
  CONCLUSIONS
  Members of a 5-generational Han Chinese family with CADASIL patients had an R133C mutation in the NOTCH3 gene but only individuals exposed to known vascular risk factors developed CADASIL.
authors.affiliation: Genomics Research Center, Harbin Medical University, Harbin, China.
authors.forename: Zhen-Xuan
authors.initials: ZX
authors.lastname: Tan
authors.forename: Fei-Feng
authors.initials: FF
authors.lastname: Li
authors.forename: You-Yang
authors.initials: YY
authors.lastname: Qu
authors.forename: Ji
authors.initials: J
authors.lastname: Liu
authors.forename: Gui-Rong
authors.initials: GR
authors.lastname: Liu
authors.forename: Jin
authors.initials: J
authors.lastname: Zhou
authors.forename: Yu-Lan
authors.initials: YL
authors.lastname: Zhu
authors.forename: Shu-Lin
authors.initials: SL
authors.lastname: Liu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000235:genetics* / Q000473:pathology; D002681:China; D005260:Female; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch