A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to accumulating neurologic deficits and dementia. CADASIL has been linked to nucleotide substitutions and deletions in the Notch3 gene. All the mutations described until now lead to unpaired cysteine residue in the epidermal growth factor-like repeats. The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue.
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
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Quattrone
D000328:Adult; D000368:Aged; D046589:CADASIL / Q000235:genetics* / Q000473:pathology; D002851:Chromatography, High Pressure Liquid; D003545:Cysteine / Q000737:chemistry; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017510:Protein Folding; D017434:Protein Structure, Tertiary; D011518:Proto-Oncogene Proteins / Q000737:chemistry / Q000235:genetics*; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface / Q000737:chemistry / Q000235:genetics*; D051880:Receptors, Notch; D020449:Repetitive Sequences, Amino Acid; D017384:Sequence Deletion; D013329:Structure-Activity Relationship
C499374:NOTCH3 protein, human; D011518:Proto-Oncogene Proteins; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch; D003545:Cysteine