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.
Artigo
em Inglês
| WPRIM
| ID: wpr-11102
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Serina
/
Timina
/
Códon
/
Prolina
/
Ciclo Celular
/
Éxons
/
Transtornos Cognitivos
/
Mutação de Sentido Incorreto
/
Acidente Vascular Cerebral
/
Citosina
Limite:
Idoso
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Dementia and Neurocognitive Disorders
Ano de publicação:
2016
Tipo de documento:
Artigo
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