@article{lymph 4666, author = {S Michelini, B Amato, S Kenanoglu, D Veselenyiova, A Dautaj, D Kurti, M Baglivo, M Dundar, J Krajcovic, GAD Miggiano, B Aquilanti, G Matera, V Velluti, L Gagliardi, SH Basha, M Bertelli}, title = {RARE PECAM1 VARIANTS IN THREE FAMILIES WITH LYMPHEDEMA}, volume = {53}, year = {2021}, url = {http://journals.librarypublishing.arizona.edu/lymph/article/id/4666/}, issue = {3}, doi = {10.2458/lymph.4666}, abstract = {<p>PECAM1 is a member of the immunoglobulin superfamily and is expressed in monocytes, neutrophils, macrophages and other types of immune cells as well as in endothelial cells. PECAM1 function is crucial for the development and maturation of B lymphocytes. The aim of this study was to link rare <i>PECAM1</i> variants found in lymphedema patients with the development of lymphatic system malformations. Using NGS, we previously tested 246 Italian lymphedema patients for variants in 29 lymphedema-associated genes and obtained 235 negative results. We then tested these patients for variants in the <i>PECAM1</i> gene. We found three probands with rare variants in <i>PECAM1</i>. All variants were heterozygous missense variants. In Family 1, the unaffected mother and brother of the proband were found to carry the same variant as the proband. Lymphoscintigraphy was performed to determine possible lymphatic malformations and showed that in both cases a bilateral slight reduction in the speed and lymphatic clearance of the lower limbs. PECAM1 function is important for lymphatic vasculature formation. We found variants in <i>PECAM1</i> that may be associated with susceptibility to lymphedema.</p>}, month = {1}, pages = {141-151}, keywords = {PECAM1,NGS,genetic diagnostics,lymphedema}, issn = {2522-7963}, publisher={International Society of Lymphology and the University of Arizona Libraries}, journal = {Lymphology} }