<i>TIE1</i> as a Candidate Gene for Lymphatic Malformations with or without Lymphedema

<i>TIE1</i> as a Candidate Gene for Lymphatic Malformations with or without Lymphedema

TIE1 is a cell surface protein expressed in endothelial cells. Involved in angiogenesis and lymphangiogenesis, including morphogenesis of lymphatic valves, TIE1 is important for lymphatic system functional integrity. The main purpose of this study was to identify different variants in the <i>T...

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Main Authors: Sandro Michelini, Maurizio Ricci, Dominika Veselenyiova, Sercan Kenanoglu, Danjela Kurti, Mirko Baglivo, Alessandro Fiorentino, Syed Hussain Basha, Sasi Priya, Roberta Serrani, Juraj Krajcovic, Munis Dundar, Astrit Dautaj, Matteo Bertelli
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:International Journal of Molecular Sciences
Subjects:
TIE1
NGS
lymphedema
genetic diagnostics
Online Access:https://www.mdpi.com/1422-0067/21/18/6780
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spelling doaj-646806b60ea742f29e45728a5712669b2020-11-25T02:31:35ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-09-01216780678010.3390/ijms21186780<i>TIE1</i> as a Candidate Gene for Lymphatic Malformations with or without LymphedemaSandro Michelini0Maurizio Ricci1Dominika Veselenyiova2Sercan Kenanoglu3Danjela Kurti4Mirko Baglivo5Alessandro Fiorentino6Syed Hussain Basha7Sasi Priya8Roberta Serrani9Juraj Krajcovic10Munis Dundar11Astrit Dautaj12Matteo Bertelli13Department of Vascular Rehabilitation, San Giovanni Battista Hospital, 00148 Rome, ItalyDivision of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, 60126 Ancona, ItalyDepartment of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius In Trnava, 91701 Trnava, SlovakiaMAGI Euregio, 39100 Bolzano, BZ, ItalyMAGI Euregio, 39100 Bolzano, BZ, ItalyMAGI Euregio, 39100 Bolzano, BZ, ItalyDepartment of Vascular Rehabilitation, San Giovanni Battista Hospital, 00148 Rome, ItalyInnovative Informatica Technologies, Hyderabad 500 049, IndiaInnovative Informatica Technologies, Hyderabad 500 049, IndiaDivision of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, 60126 Ancona, ItalyDepartment of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius In Trnava, 91701 Trnava, SlovakiaDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, 38039 Kayseri, TurkeyMAGI-Balkan, 1019 Tirana, AlbaniaMAGI Euregio, 39100 Bolzano, BZ, ItalyTIE1 is a cell surface protein expressed in endothelial cells. Involved in angiogenesis and lymphangiogenesis, including morphogenesis of lymphatic valves, TIE1 is important for lymphatic system functional integrity. The main purpose of this study was to identify different variants in the <i>TIE1</i> gene that could be associated with lymphatic malformations or dysfunction and predisposition for lymphedema. In a cohort of 235 Italian lymphedema patients, who tested negative for variants in known lymphedema genes, we performed a further test for new candidate genes, including <i>TIE1</i>. Three probands carried different variants in <i>TIE1</i>. Two of these segregated with lymphedema or lymphatic dysfunction in familial cases. Variants in <i>TIE1</i> could contribute to the onset of lymphedema. On the basis of our findings, we propose <i>TIE1</i> as a candidate gene for comprehensive genetic testing of lymphedema.https://www.mdpi.com/1422-0067/21/18/6780TIE1NGSlymphedemagenetic diagnostics
collection DOAJ
language English
format Article
sources DOAJ
author Sandro Michelini
Maurizio Ricci
Dominika Veselenyiova
Sercan Kenanoglu
Danjela Kurti
Mirko Baglivo
Alessandro Fiorentino
Syed Hussain Basha
Sasi Priya
Roberta Serrani
Juraj Krajcovic
Munis Dundar
Astrit Dautaj
Matteo Bertelli
spellingShingle Sandro Michelini
Maurizio Ricci
Dominika Veselenyiova
Sercan Kenanoglu
Danjela Kurti
Mirko Baglivo
Alessandro Fiorentino
Syed Hussain Basha
Sasi Priya
Roberta Serrani
Juraj Krajcovic
Munis Dundar
Astrit Dautaj
Matteo Bertelli
<i>TIE1</i> as a Candidate Gene for Lymphatic Malformations with or without Lymphedema
International Journal of Molecular Sciences
TIE1
NGS
lymphedema
genetic diagnostics
author_facet Sandro Michelini
Maurizio Ricci
Dominika Veselenyiova
Sercan Kenanoglu
Danjela Kurti
Mirko Baglivo
Alessandro Fiorentino
Syed Hussain Basha
Sasi Priya
Roberta Serrani
Juraj Krajcovic
Munis Dundar
Astrit Dautaj
Matteo Bertelli
author_sort Sandro Michelini
title <i>TIE1</i> as a Candidate Gene for Lymphatic Malformations with or without Lymphedema
title_short <i>TIE1</i> as a Candidate Gene for Lymphatic Malformations with or without Lymphedema
title_full <i>TIE1</i> as a Candidate Gene for Lymphatic Malformations with or without Lymphedema
title_fullStr <i>TIE1</i> as a Candidate Gene for Lymphatic Malformations with or without Lymphedema
title_full_unstemmed <i>TIE1</i> as a Candidate Gene for Lymphatic Malformations with or without Lymphedema
title_sort <i>tie1</i> as a candidate gene for lymphatic malformations with or without lymphedema
publisher MDPI AG
series International Journal of Molecular Sciences
issn 1661-6596
1422-0067
publishDate 2020-09-01
description TIE1 is a cell surface protein expressed in endothelial cells. Involved in angiogenesis and lymphangiogenesis, including morphogenesis of lymphatic valves, TIE1 is important for lymphatic system functional integrity. The main purpose of this study was to identify different variants in the <i>TIE1</i> gene that could be associated with lymphatic malformations or dysfunction and predisposition for lymphedema. In a cohort of 235 Italian lymphedema patients, who tested negative for variants in known lymphedema genes, we performed a further test for new candidate genes, including <i>TIE1</i>. Three probands carried different variants in <i>TIE1</i>. Two of these segregated with lymphedema or lymphatic dysfunction in familial cases. Variants in <i>TIE1</i> could contribute to the onset of lymphedema. On the basis of our findings, we propose <i>TIE1</i> as a candidate gene for comprehensive genetic testing of lymphedema.
topic TIE1
NGS
lymphedema
genetic diagnostics
url https://www.mdpi.com/1422-0067/21/18/6780
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