A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.
CADASIL
Homozygous nonsense mutation
NOTCH3
Sneddon syndrome
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
06
04
2020
accepted:
13
07
2020
revised:
05
06
2020
pubmed:
28
9
2020
medline:
22
6
2021
entrez:
27
9
2020
Statut:
ppublish
Résumé
Sneddon syndrome is a rare disorder affecting small and medium-sized blood vessels that is characterized by the association of livedo reticularis and stroke. We performed whole-exome sequencing (WES) in 2 affected siblings of a consanguineous family with childhood-onset stroke and identified a homozygous nonsense mutation within the epidermal growth factor repeat (EGFr) 19 of NOTCH3, p.(Arg735Ter). WES of 6 additional cases with adult-onset stroke revealed 2 patients carrying heterozygous loss-of-function variants in putative NOTCH3 downstream genes, ANGPTL4, and PALLD. Our findings suggest that impaired NOTCH3 signaling is one underlying disease mechanism and that bi-allelic loss-of-function mutation in NOTCH3 is a cause of familial Sneddon syndrome with pediatric stroke.
Identifiants
pubmed: 32980981
doi: 10.1007/s00415-020-10081-5
pii: 10.1007/s00415-020-10081-5
pmc: PMC7914241
doi:
Substances chimiques
Codon, Nonsense
0
NOTCH3 protein, human
0
Receptor, Notch3
0
Epidermal Growth Factor
62229-50-9
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
810-816Références
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