Genetic testing for hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain. HHT has incomplete penetrance, variable expressivity and...

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Main Authors:	Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Marinelli Carla, Mattassi Raul Ettore, Amato Bruno, Beccari Tommaso, Dundar Munis, Bertelli Matteo
Format:	Article
Language:	English
Published:	Sciendo 2018-09-01
Series:	The EuroBiotech Journal
Subjects:	hereditary hemorrhagic telangiectasia acvrl1 eng gdf2 smad4 ebtna utility gene test
Online Access:	https://doi.org/10.2478/ebtj-2018-0031

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spelling	doaj-32aa2785499c4af5acf57cca0c4feac82021-09-05T21:00:44ZengSciendoThe EuroBiotech Journal2564-615X2018-09-012s1323410.2478/ebtj-2018-0031ebtj-2018-0031Genetic testing for hereditary hemorrhagic telangiectasiaRakhmanov Yeltay0Maltese Paolo Enrico1Paolacci Stefano2Marinelli Carla3Mattassi Raul Ettore4Amato Bruno5Beccari Tommaso6Dundar Munis7Bertelli Matteo8MAGI’s Lab, Rovereto, ItalyMAGI’s Lab, Rovereto, ItalyMAGI Euregio, Bolzano, ItalyMAGI’s Lab, Rovereto, ItalyCenter for Vascular Malformations, “Stefan Belov”, Clinical Institute Humanitas “Mater Domini”, Castellanza (Varese), ItalyDepartment of Clinical Medicine and Surgery at University of Naples Federico II, Naples, ItalyDepartment of Pharmaceutical Sciences, University of Perugia, Perugia, ItalyDepartment of Medical Genetics, Erciyes University Medical School, Kayseri, TurkeyMAGI’s Lab, Rovereto, ItalyHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain. HHT has incomplete penetrance, variable expressivity and genetic heterogeneity. De novo mutations associated with the onset of sporadic HHT have been reported. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.https://doi.org/10.2478/ebtj-2018-0031hereditary hemorrhagic telangiectasiaacvrl1enggdf2smad4ebtna utility gene test
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Rakhmanov Yeltay Maltese Paolo Enrico Paolacci Stefano Marinelli Carla Mattassi Raul Ettore Amato Bruno Beccari Tommaso Dundar Munis Bertelli Matteo
spellingShingle	Rakhmanov Yeltay Maltese Paolo Enrico Paolacci Stefano Marinelli Carla Mattassi Raul Ettore Amato Bruno Beccari Tommaso Dundar Munis Bertelli Matteo Genetic testing for hereditary hemorrhagic telangiectasia The EuroBiotech Journal hereditary hemorrhagic telangiectasia acvrl1 eng gdf2 smad4 ebtna utility gene test
author_facet	Rakhmanov Yeltay Maltese Paolo Enrico Paolacci Stefano Marinelli Carla Mattassi Raul Ettore Amato Bruno Beccari Tommaso Dundar Munis Bertelli Matteo
author_sort	Rakhmanov Yeltay
title	Genetic testing for hereditary hemorrhagic telangiectasia
title_short	Genetic testing for hereditary hemorrhagic telangiectasia
title_full	Genetic testing for hereditary hemorrhagic telangiectasia
title_fullStr	Genetic testing for hereditary hemorrhagic telangiectasia
title_full_unstemmed	Genetic testing for hereditary hemorrhagic telangiectasia
title_sort	genetic testing for hereditary hemorrhagic telangiectasia
publisher	Sciendo
series	The EuroBiotech Journal
issn	2564-615X
publishDate	2018-09-01
description	Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain. HHT has incomplete penetrance, variable expressivity and genetic heterogeneity. De novo mutations associated with the onset of sporadic HHT have been reported. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.
topic	hereditary hemorrhagic telangiectasia acvrl1 eng gdf2 smad4 ebtna utility gene test
url	https://doi.org/10.2478/ebtj-2018-0031
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Genetic testing for hereditary hemorrhagic telangiectasia

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