Genotypephenotype Correlation

No correlations are found between a mutation and a clinical phenotype because a family unique presentation such as migraine or stroke is also found with several other mutations.[2,3] Additionally, we did not notice neither different clinical presentations nor different skin vessel wall lesions in CADASIL patients with mutations located either in the first or very last exons. Interestingly, a homozygous patient followed in Finland was indistinguishable when compared with an age-matched heterozygous patient with the same R133C Notch3 mutation. The double dose of gene defect does not appear to aggravate the symptoms, which indicates that either mutated Notch3 receptors retain some of their function, or other molecules can compensate for the loss.[16]

case of negative result, a skin biopsy is performed for ultrastructural and immunohistochemical studies. A positive result leads to a mutation analysis of all EGF-encoding exons and then to a mutation screening of remaining Notch3.

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