Correlation Engine 2.0
Clear Search sequence regions


Sizes of these terms reflect their relevance to your search.

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.

Citation

Elli Katharine Greisenegger, Sara Llufriu, Angel Chamorro, Alvaro Cervera, Adriano Jimenez-Escrig, Klemens Rappersberger, Wolfgang Marik, Stefan Greisenegger, Elisabeth Stögmann, Tamara Kopp, Tim M Strom, Jörg Henes, Anne Joutel, Alexander Zimprich. A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke. Journal of neurology. 2021 Mar;268(3):810-816

Expand section icon Mesh Tags

Expand section icon Substances


PMID: 32980981

View Full Text