Genetic study of the HGF-Met signaling pathway in primary lymphedema patients: supporting evidence for loss of function variants in HGF

The lymphatic system, composed of lymphatic vessels, is essential for the drainage of lymphatic fluid. Disruptions in this system lead to lymphedema, characterized by inflammation and fluid accumulation. This condition, when resulting from genetic variants, is known as primary lymphedema. This study explores the genetic basis of primary lymphedema in an Italian cohort by analyzing genes in the HGF/MET signaling pathway. Eight variants in HGF, MET and CBL were identified in 8 patients. Two Met variants were supported by molecular modeling studies as pathogenic.