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Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.
- Source :
-
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG [J Dtsch Dermatol Ges] 2020 Mar; Vol. 18 (3), pp. 215-223. Date of Electronic Publication: 2020 Feb 17. - Publication Year :
- 2020
-
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.<br />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.<br />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.<br />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.<br /> (© 2020 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.)
Details
- Language :
- English
- ISSN :
- 1610-0387
- Volume :
- 18
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
- Publication Type :
- Academic Journal
- Accession number :
- 32065705
- Full Text :
- https://doi.org/10.1111/ddg.14036