A new de novo Notch3 mutation causing CADASIL.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders, or dementia, are also frequently found in these patients. Missense mutations in the Notch3 gene that create or destroy cysteine residues, have been found in most cases with a family history of the disease, although a few sporadic cases harbouring Notch3 mutations have also been described. Here, we describe a 44-year-old patient with clinical features of CADASIL who was a carrier of a new Notch3 mutation: cys128-->gly. Both parents were alive and healthy, and negative for the mutation. This case illustrates the interest of analysing the Notch3 gene in cases with clinical features of CADASIL, even in the absence of a family history of the disease.
Coto
E
E
Genetica Molecular, Hospital Central de Asturias, Servicio de Salud del Principado de Asturias, Spain. eliecer.coto@sespa.princast.es
Menéndez
M
M
Navarro
R
R
García-Castro
M
M
Alvarez
V
V
D000328:Adult; D046589:CADASIL / Q000235:genetics* / Q000473:pathology; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D005998:Glycine / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation; D012333:RNA, Messenger / Q000378:metabolism; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
C499374:NOTCH3 protein, human; D012333:RNA, Messenger; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D003545:Cysteine; D005998:Glycine