Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema

摘要: Lymphedema is caused by dysfunction of lymphatic vessels, leading to disabling swelling that occurs mostly on the extremities. can be either primary (congenital) or secondary (acquired). Familial lymphedema commonly segregates in an autosomal dominant recessive manner. It also occur combination with other clinical features. Nine mutated genes have been identified different isolated syndromic forms lymphedema. However, prevalence explained these genetic alterations unknown. In this study, we investigated 7 putative genes. We screened 78 index patients from families inherited for mutations FLT4, GJC2, FOXC2, SOX18, GATA2, CCBE1, and PTPN14. Altogether, discovered 28 explaining 36% cases. Additionally, 149 sporadic were Twelve found explain 8% Still unidentified cause 64% a family history 92% Identification those important understanding etiopathogenesis, stratification treatments generation disease models. Interestingly, most proteins are encoded seem act single functional pathway involving VEGFR3 signaling. This underscores role plays development function suggests unknown role.