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
em En
| WPRIM
| ID: wpr-11102
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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.
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Base de dados:
WPRIM
Assunto principal:
Serina
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Timina
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Códon
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Prolina
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Ciclo Celular
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Éxons
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Transtornos Cognitivos
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Mutação de Sentido Incorreto
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Acidente Vascular Cerebral
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Citosina
Limite:
Aged
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Female
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Humans
Idioma:
En
Revista:
Dementia and Neurocognitive Disorders
Ano de publicação:
2016
Tipo de documento:
Article