Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia

Abstract Hereditary Hemorrhagic Telangiectasia (HHT) is a rare vascular disease mainly caused by pathogenic mutations in ACVRL1 and ENG genes. Despite advances in HHT diagnosis, the molecular origin of some cases remains unclear. Recently, we observed a high prevalence of HHT-causing 5’UTR variants...

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Autores principales:	Carole Proust, Clémence Deiber, Caroline Meguerditchian, Maud Tusseau, Alexandre Guilhem, Shirine Mohamed, Aurélie Goyenvalle, Béatrice Jaspard-Vinassa, Sophie Dupuis-Girod, David-Alexandre Trégouët, Omar Soukarieh
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Nature Portfolio 2025-07-01
Colección:	Communications Biology
Acceso en línea:	https://doi.org/10.1038/s42003-025-08461-6
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