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.
Artículo
en Inglés
| 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:
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Serina
/
Timina
/
Codón
/
Prolina
/
Ciclo Celular
/
Exones
/
Trastornos del Conocimiento
/
Mutación Missense
/
Accidente Cerebrovascular
/
Citosina
Límite:
Anciano
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Dementia and Neurocognitive Disorders
Año:
2016
Tipo del documento:
Artículo
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