Not Described Variant of Notch3 Gen for Cadasil Disease.
Autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL), is a genetic disease caused by mutations in the Notch3 gene. More than 170 monogenic mutations leading to the development of CADASIL have been reported. We describe a case of a patient and her family with compatible symptoms of CADASIL disease, in which a variable not yet described in the Notch3 gene was detected, that generates a probably pathogenic change in the protein.
['Mellinger|Surai|S|', 'Romero|D|D|', 'Visich|A|A|', 'Chanampa|S|S|', 'Ivetich|G|G|', 'Burgos|M|M|', 'Orzuza|G|G|']
D000328:Adult D046589:CADASIL D005260:Female D020022:Genetic Predisposition to Disease D040941:Heredity D006801:Humans D008297:Male D008875:Middle Aged D009154:Mutation D010375:Pedigree D010641:Phenotype D000071656:Receptor, Notch3
CADASIL genetic disease mutation EGFR extracelular domains NOTCH 3