A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency

Abstract

For the first time, a deep intronic mutation that was detected by NGS in the SERPING1 gene, was proven pathogenic for C1-INH-HAE. Therefore, advanced DNA sequencing methods should be performed in cases of C1-INH-HAE where standard approaches fail to uncover the genetic alteration.