Four Novel Disease-Causing Variants in the
CADASIL
next-generation sequencing (NGS)
targeted gene sequencing
the NOTCH3 gene
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
28 Aug 2023
28 Aug 2023
Historique:
received:
01
08
2023
revised:
21
08
2023
accepted:
22
08
2023
medline:
28
9
2023
pubmed:
28
9
2023
entrez:
28
9
2023
Statut:
epublish
Résumé
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease with unknown mechanisms and a broad phenotypic spectrum. It is caused by pathogenic variants in the Peripheral blood samples were collected from five patients from four unrelated families to extract genomic DNA. In four patients, analysis of exons 2, 3, 4, 5, 6 and adjacent intronic regions of the We found four previously undescribed pathogenic variants in the
Sections du résumé
BACKGROUND
BACKGROUND
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease with unknown mechanisms and a broad phenotypic spectrum. It is caused by pathogenic variants in the
CASE PRESENTATION
METHODS
Peripheral blood samples were collected from five patients from four unrelated families to extract genomic DNA. In four patients, analysis of exons 2, 3, 4, 5, 6 and adjacent intronic regions of the
CONCLUSION
CONCLUSIONS
We found four previously undescribed pathogenic variants in the
Identifiants
pubmed: 37761855
pii: genes14091715
doi: 10.3390/genes14091715
pmc: PMC10531103
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
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