title: A novel mutation (C271F) in the Notch3 gene in a Chinese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
abstract: BACKGROUND
  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset hereditary condition caused by mutations in the Notch3 gene. A Chinese man was studied.
  
  
  METHODS
  Electronic microscopy examination of skin biopsy. The Notch3 gene was screened for mutations by polymerase chain reaction and direct DNA sequencing.
  
  
  RESULTS
  Electronic microscopy showed the presence of deposits of granular osmiophilic material in dermal capillaries in the index patient. A novel heterozygous C271F in exon 6 was detected in the index patient. This heterozygous C271F mutation was also detected in the asymptomatic elder son but was not detected in the asymptomatic wife of the patient. Allele specific amplification showed that C271F was not detected in 100 normal subjects.
  
  
  CONCLUSIONS
  We established the molecular basis of CADASIL in a Chinese man. Mutation detection assay provides a reliable method for confirming the diagnosis of CADASIL.
authors.affiliation: Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China. aukm@ha.org.hk
authors.forename: Kam-Ming
authors.initials: KM
authors.lastname: Au
authors.forename: Ho-Lun
authors.initials: HL
authors.lastname: Li
authors.forename: Bun
authors.initials: B
authors.lastname: Sheng
authors.forename: Tat-Chong
authors.initials: TC
authors.lastname: Chow
authors.forename: Mo-Lung
authors.initials: ML
authors.lastname: Chen
authors.forename: Kam-Cheong
authors.initials: KC
authors.lastname: Lee
authors.forename: Albert Yan-Wo
authors.initials: AY
authors.lastname: Chan
mesh_terms: D044466:Asian People; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics*; D002196:Capillaries / Q000473:pathology; D004252:DNA Mutational Analysis; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch