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

• 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
• ISSN: 1661-6596; 1422-0067

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.