Rare Pecam1 Variants in Three Families With Lymphedema

Abstract

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 PECAM1 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 PECAM1 gene. We found three probands with rare variants in PECAM1. 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 PECAM1 that may be associated with susceptibility to lymphedema.

Identification of Key Biomarkers and Candidate Molecules in Non-Small-Cell Lung Cancer by Integrated Bioinformatics Analysis

“…PECAM1 is a member of the immunoglobulin superfamily and is expressed in monocytes, neutrophils, macrophages, and other types of immune cells, as well as endothelial cells [29]. Tey may be involved in leukocyte migration, angiogenesis, and integrin activation.…”

“…Platelet adhesion molecule-1 (PECAM1), a cell adhesion and signaling receptor, is located on chromosome 17q23.3 and encodes a protein found on the surface of monocytes, platelets, neutrophils, and certain types of T cells and makes up most of the intercellular junctions in endothelial cells. PECAM1 is a member of the immunoglobulin superfamily and is expressed in monocytes, neutrophils, macrophages, and other types of immune cells, as well as endothelial cells [ 29 ]. They may be involved in leukocyte migration, angiogenesis, and integrin activation.…”