Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathyopen access
- Authors
- Choi, Byung Woo; Park, Seongho; Kim, Hee Jin
- Issue Date
- Jun-2016
- Publisher
- 대한치매학회
- Keywords
- cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; c.499C> T; p.P167S
- Citation
- Dementia and Neurocognitive Disorders(대한치매학회지), v.15, no.2, pp.52 - 54
- Indexed
- KCI
- Journal Title
- Dementia and Neurocognitive Disorders(대한치매학회지)
- Volume
- 15
- Number
- 2
- Start Page
- 52
- End Page
- 54
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/154459
- DOI
- 10.12779/dnd.2016.15.2.52
- ISSN
- 1738-1495
- Abstract
- BackgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane receptor which plays a role in cellular differentiation and cell cycle regulation.
Case ReportA 71-year-old female showing headache and memory impairment, familial history of stroke and having a missense mutation from proline to serine at codon 167 in the exon 4 on NOTCH3 gene. Five family members revealed the same mutation (c.499C>T), who presented migrainous headache and stroke. In this study, we have uncovered a novel NOTCH3 mutation at the nucleotide position 499 (c.499C>T; p.P167S) in a family with CADASIL.
ConclusionsWe suggested a missense mutation of proline to serine at codon 167 in exon 4 of the NOTCH3 gene, which resulted in the substitution of cytosine to thymine (c.499C>T) resulting migraine, stroke and vascular cognitive impairment.
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