Article
Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago.
Molecular genetics & genomic medicine - 1 Aug 2022
Sbalchiero Anna, Abu Hweij Yasmin, Mazza Tommaso, Buscarini Elisabetta, Scotti Claudia, Pagella Fabio, Manfredi Guido, Matti Elina, Spinozzi Giuseppe, Olivieri Carla
Abstract excerpt
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF-β/BMPs signaling pathway. We found 19 HHT unrelated families, coming from a Northern Italy region and sharing the ACVRL1 in-frame deletion c.289_294del (p.H97_N98). METHODS: To test the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.