The spectrum of Notch3 mutations in 28 Italian CADASIL families

Abstract

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.

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