1. Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.
- Author
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Bork K, Zibat A, Ferrari DM, Wollnik B, Schön MP, Wulff K, and Lippert U
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Family, Female, Humans, Male, Middle Aged, Mutation, Missense, Phenotype, Young Adult, Angioedemas, Hereditary genetics, Complement C1 Inhibitor Protein genetics, Mutation, Plasminogen genetics
- Abstract
Background: Hereditary angioedema (HAE) is a group of genetic diseases characterized by recurrent, painful and potentially lethal tissue swelling. The most common form results from mutations in the SERPING1 gene, leading to reduced function of complement 1 inhibitor (C1-INH). Rarer forms with normal C1-INH may arise from mutations in the coagulation factor F12 gene, but mostly the genetic background is unknown. Recently, a novel HAE mutation in the plasminogen (PLG) gene was shown., Patients and Methods: We analyzed the various clinical manifestations of HAE in 14 related patients using clinical data, biochemical analysis for C1-INH and C4 as well as gene sequencing., Results: Patients' symptoms were assigned to two different forms of HAE. In ten patients suffering from swelling of the lips or tongue but not of the extremities, a mutation in the PLG gene (c.988A>G) was found whereas in the only four patients with swelling of the gastrointestinal tract and extremities, a mutation in the SERPING1 gene (c.1480C>T) was identified. In two cases this was additional to PLG c.988A>G., Conclusions: This unique finding of two different HAE-specific mutations in a large family not only explains the divergent phenotypes but also supports a genotype-phenotype correlation showing that abdominal attacks and swelling of the extremities are common with HAE-C1-INH but unusual with HAE-PLG., (© 2020 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.)
- Published
- 2020
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