Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Dementia and Neurocognitive Disorders
; : 52-54, 2016.
Article
in En
| WPRIM
| ID: wpr-11102
Responsible library:
WPRO
ABSTRACT
BACKGROUND:
Cerebral 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 REPORT A 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.CONCLUSIONS:
We 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.Key words
Full text:
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Index:
WPRIM
Main subject:
Serine
/
Thymine
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Codon
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Proline
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Cell Cycle
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Exons
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Cognition Disorders
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Mutation, Missense
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Stroke
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Cytosine
Limits:
Aged
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Female
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Humans
Language:
En
Journal:
Dementia and Neurocognitive Disorders
Year:
2016
Type:
Article