Cargando…

Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

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 c...

Descripción completa

Detalles Bibliográficos
Autores principales: Choi, Byung Woo, Park, Seongho, Kim, Hee-Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Dementia Association 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6427975/
https://www.ncbi.nlm.nih.gov/pubmed/30906341
http://dx.doi.org/10.12779/dnd.2016.15.2.52
_version_ 1783405329127571456
author Choi, Byung Woo
Park, Seongho
Kim, Hee-Jin
author_facet Choi, Byung Woo
Park, Seongho
Kim, Hee-Jin
author_sort Choi, Byung Woo
collection PubMed
description 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.
format Online
Article
Text
id pubmed-6427975
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Korean Dementia Association
record_format MEDLINE/PubMed
spelling pubmed-64279752019-03-22 Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Choi, Byung Woo Park, Seongho Kim, Hee-Jin Dement Neurocogn Disord Case Report 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. Korean Dementia Association 2016-06 2016-06-30 /pmc/articles/PMC6427975/ /pubmed/30906341 http://dx.doi.org/10.12779/dnd.2016.15.2.52 Text en © 2016 Korean Dementia Association http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Choi, Byung Woo
Park, Seongho
Kim, Hee-Jin
Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
title Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
title_full Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
title_fullStr Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
title_full_unstemmed Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
title_short Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
title_sort possible role of a missense mutation of p.p167s on notch3 gene associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6427975/
https://www.ncbi.nlm.nih.gov/pubmed/30906341
http://dx.doi.org/10.12779/dnd.2016.15.2.52
work_keys_str_mv AT choibyungwoo possibleroleofamissensemutationofpp167sonnotch3geneassociatedwithcerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathy
AT parkseongho possibleroleofamissensemutationofpp167sonnotch3geneassociatedwithcerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathy
AT kimheejin possibleroleofamissensemutationofpp167sonnotch3geneassociatedwithcerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathy