Molecular diagnosis of hereditary angioedema patients using a 77 gene NGS panel

Abstract

Hereditary Angioedema (HAE) is a rare autosomal dominant genetic disease frequently caused by mutations in the C1 inhibitor gene SERPING1, resulting in dysregulated kallikrein–kinin system (KKS) and overproduction of bradykinin. Despite a constellation of pathogenic mutations identified in SERPING1 and 5 others genes in the KKS pathway, genetic diagnosis of some patients with unknown HAE causing mutations but clear HAE clinical presentations are elusive. Genetic modifiers that may contribute to disease severity remains to be investigated.