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The spectrum of Notch3 mutations in 28 Italian CADASIL families
  1. M T Dotti,
  2. A Federico,
  3. R Mazzei,
  4. S Bianchi,
  5. O Scali,
  6. F L Conforti,
  7. T Sprovieri,
  8. D Guidetti,
  9. U Aguglia,
  10. D Consoli,
  11. L Pantoni,
  12. C Sarti,
  13. D Inzitari,
  14. A Quattrone

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    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.