2. Academic Validation
  3. TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema

TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema

  • Int J Mol Sci. 2020 Sep 16;21(18):6780. doi: 10.3390/ijms21186780.
Sandro Michelini 1,  Maurizio Ricci 2,  Dominika Veselenyiova 3 4,  Sercan Kenanoglu 4 5,  Danjela Kurti 4 6,  Mirko Baglivo 4,  Alessandro Fiorentino 1,  Syed Hussain Basha 7,  Sasi Priya 7,  Roberta Serrani 2,  Juraj Krajcovic 3,  Munis Dundar 5,  Astrit Dautaj 6 8,  Matteo Bertelli 4 8 9
Affiliations

Affiliations

  • 1 Department of Vascular Rehabilitation, San Giovanni Battista Hospital, 00148 Rome, Italy.
  • 2 Division of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, 60126 Ancona, Italy.
  • 3 Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius In Trnava, 91701 Trnava, Slovakia.
  • 4 MAGI Euregio, 39100 Bolzano, BZ, Italy.
  • 5 Department of Medical Genetics, Faculty of Medicine, Erciyes University, 38039 Kayseri, Turkey.
  • 6 MAGI-Balkan, 1019 Tirana, Albania.
  • 7 Innovative Informatica Technologies, Hyderabad 500 049, India.
  • 8 EBTNA-Lab, 38068 Rovereto, TN, Italy.
  • 9 MAGI's Lab, 38068 Rovereto, TN, Italy.
PMID: 32947856 DOI: 10.3390/ijms21186780
Abstract

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 TIE1 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 TIE1. Three probands carried different variants in TIE1. Two of these segregated with lymphedema or lymphatic dysfunction in familial cases. Variants in TIE1 could contribute to the onset of lymphedema. On the basis of our findings, we propose TIE1 as a candidate gene for comprehensive genetic testing of lymphedema.

Keywords

NGS; TIE1; genetic diagnostics; lymphedema.

Figures