title: The spectrum of Notch3 mutations in 28 Italian CADASIL families.
abstract: BACKGROUND
  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cause of hereditary cerebrovascular disease. It results from mutations in the Notch3 gene, a large gene with 33 exons. A cluster of mutations around exons 3 and 4 was originally reported and limited scanning of these exons was suggested for the diagnosis in most cases.
  
  
  OBJECTIVE
  To report Notch3 mutation analysis in 28 unrelated Italian CADASIL families from central and south Italy.
  
  
  RESULTS
  The highest rate of mutations was found in exon 11 (21%) and only 18% of mutations were in exon 4. This may be related to the peculiar distribution of Notch3 mutations in the regions of origin of the families.
  
  
  CONCLUSIONS
  The results suggest that limited scanning of exons 3 and 4 is inadvisable in CADASIL cases of Italian origin.
authors.affiliation: Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Viale Bracci, 53100 Siena, Italy.
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: R
authors.initials: R
authors.lastname: Mazzei
authors.forename: S
authors.initials: S
authors.lastname: Bianchi
authors.forename: O
authors.initials: O
authors.lastname: Scali
authors.forename: F L
authors.initials: FL
authors.lastname: Conforti
authors.forename: T
authors.initials: T
authors.lastname: Sprovieri
authors.forename: D
authors.initials: D
authors.lastname: Guidetti
authors.forename: U
authors.initials: U
authors.lastname: Aguglia
authors.forename: D
authors.initials: D
authors.lastname: Consoli
authors.forename: L
authors.initials: L
authors.lastname: Pantoni
authors.forename: C
authors.initials: C
authors.lastname: Sarti
authors.forename: D
authors.initials: D
authors.lastname: Inzitari
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D046589:CADASIL / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005091:Exons / Q000235:genetics; D015698:Genomic Library; D006801:Humans; D007558:Italy; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface / Q000235:genetics*; D051880:Receptors, Notch
chemical_list: D017931:DNA Primers; C499374:NOTCH3 protein, human; D011518:Proto-Oncogene Proteins; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch