Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene.
No genetically diagnosed cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) pedigrees with venous insufficiency have been described. In a CADASIL pedigree with varicose veins, the authors have identified a novel heterozygous mutation in the 3' splice acceptor site of intron 15 of the Notch3 gene. This, based on mRNA analysis, resulted in skipping of exon 16 including eight cysteine residues of EGF-like repeats.
Saiki
S
S
Department of Neurology, Kanazawa Medical University, Ishikawa, Japan. ss644@cam.ac.uk
Sakai
K
K
Saiki
M
M
Kitagawa
Y
Y
Umemori
T
T
Murata
K
K
Matsui
M
M
Hirose
G
G
D000328:Adult; D000369:Aged, 80 and over; D046589:CADASIL / Q000453:epidemiology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D015995:Prevalence; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D014648:Varicose Veins / Q000453:epidemiology* / Q000235:genetics*
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch