Article

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

2025-05-05

Abstract excerpt

<title>Abstract</title> <p>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 in ENG. These variants commonly introduce upstream AUG codons (uAUGs) at the origin of upstream op...

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Literature Corpus work: f344b22e-dfda-536d-bd68-90f2b25d6e54
DOI: 10.21203/rs.3.rs-4808835/v1

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