Screening for Plasminogen Mutations in Hereditary Angioedema Patients

• Main Authors: Henriette Farkas, Anna Dóczy, Edina Szabó, Lilian Varga, Dorottya Csuka
• Format: Article
• Language: English
• Published: MDPI AG 2021-03-01
• Series: Genes
• Subjects: hereditary angioedema; plasminogen; mutation; family screening; biorepository
• Online Access: https://www.mdpi.com/2073-4425/12/3/402

Hereditary angioedema (HAE) is a rare disease belonging to the group of bradykinin-mediated angioedemas, characterized by recurring edematous episodes involving the subcutaneous and/or submucosal tissues. Most cases of HAE are caused by mutations in the <i>SERPING1</i> gene encoding C1-inhibitor (C1-INH-HAE); however, mutation analysis identified seven further types of HAE: HAE with Factor XII mutation (FXII-HAE), with plasminogen gene mutation (PLG-HAE), with angiopoietin-1 gene mutation (ANGPT1-HAE), with kininogen-1 gene mutation (KNG1-HAE), with a myoferlin gene mutation (MYOF-HAE), with a heparan sulfate-glucosamine 3-sulfotransferase 6 (<i>HS3ST6</i>) mutation, and hereditary angioedema of unknown origin (U-HAE). We sequenced DNA samples stored from 124 U-HAE patients in the biorepository for exon 9 of the <i>PLG</i> gene. One of the 124 subjects carried the mutation causing a lysine to glutamic acid amino acid exchange at position 330 (K330E). Later, the same <i>PLG</i> mutation was identified in the patient’s son. The introduction of new techniques into genetic testing has increased the number of genes identified. As shown by this study, a biorepository creates the means for the ex-post analysis of recently identified genes in stored DNA samples of the patients. This makes the diagnosis more accurate with the possibility of subsequent family screening and the introduction of appropriate therapy.