Not Described Variant of Notch3 Gen for Cadasil Disease.
CADASIL
EGFR extracelular domains
NOTCH 3
genetic disease
mutation
Journal
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
ISSN: 1532-8511
Titre abrégé: J Stroke Cerebrovasc Dis
Pays: United States
ID NLM: 9111633
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
24
08
2019
revised:
09
02
2020
accepted:
02
03
2020
pubmed:
11
5
2020
medline:
6
10
2020
entrez:
11
5
2020
Statut:
ppublish
Résumé
Autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL), is a genetic disease caused by mutations in the Notch3 gene. More than 170 monogenic mutations leading to the development of CADASIL have been reported. We describe a case of a patient and her family with compatible symptoms of CADASIL disease, in which a variable not yet described in the Notch3 gene was detected, that generates a probably pathogenic change in the protein.
Identifiants
pubmed: 32387185
pii: S1052-3057(20)30187-7
doi: 10.1016/j.jstrokecerebrovasdis.2020.104803
pii:
doi:
Substances chimiques
NOTCH3 protein, human
0
Receptor, Notch3
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
104803Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.