Abstract
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family.
Highlights
Hereditary Hemorrhagic Telangiectasia (HHT), known as Osler-Weber-Rendu disease (OMIM #187300) is an autosomal dominant and multisystemic vascular dysplasia characterized by telangiectasias and arteriovenous malformations (AVMs) in major organs (Miller et al, 1988; Begbie et al, 2003; Abdalla and Letarte, 2006; Richards-Yutz et al, 2010; Faughnan et al, 2011; McDonald et al, 2011)
They manifest with recurrent epistaxis and telangiectasias but can present more severe symptoms as anemia, gastrointestinal bleeding and complications due to AVMs in the brain, liver or lungs (McDonald et al, 2011)
The diagnosis of HHT is made using the Curaçao criteria that consist of epistaxis, telangiectasias, visceral lesions and family history; to diagnose it, three of the four Curaçao criteria should be present (Faughnan et al, 2011)
Summary
Hereditary Hemorrhagic Telangiectasia (HHT), known as Osler-Weber-Rendu disease (OMIM #187300) is an autosomal dominant and multisystemic vascular dysplasia characterized by telangiectasias and arteriovenous malformations (AVMs) in major organs (Miller et al, 1988; Begbie et al, 2003; Abdalla and Letarte, 2006; Richards-Yutz et al, 2010; Faughnan et al, 2011; McDonald et al, 2011). They manifest with recurrent epistaxis and telangiectasias but can present more severe symptoms as anemia, gastrointestinal bleeding and complications due to AVMs in the brain, liver or lungs (McDonald et al, 2011). Mutations in GDF2 gene have been related to a HHT-like disease (Wooderchak-Donahue et al, 2013; McDonald et al, 2015).
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