{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T16:30:12Z","timestamp":1793118612032,"version":"4.5.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T00:00:00Z","timestamp":1581897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Deutsche Derma Gesell"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>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 <jats:italic>SERPING1<\/jats:italic> gene, leading to reduced function of complement\u00a01 inhibitor (C1\u2010INH). Rarer forms with normal C1\u2010INH may arise from mutations in the coagulation factor <jats:italic>F12<\/jats:italic> gene, but mostly the genetic background is unknown. Recently, a novel HAE mutation in the plasminogen (<jats:italic>PLG<\/jats:italic>) gene was shown.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods<\/jats:title><jats:p>We analyzed the various clinical manifestations of HAE in 14 related patients using clinical data, biochemical analysis for C1\u2010INH and C4 as well as gene sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients\u2019 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 <jats:italic>PLG<\/jats:italic> gene (c.988A&gt;G) was found whereas in the only four patients with swelling of the gastrointestinal tract and extremities, a mutation in the <jats:italic>SERPING1<\/jats:italic> gene (c.1480C&gt;T) was identified. In two cases this was additional to <jats:italic>PLG<\/jats:italic> c.988A&gt;G.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This unique finding of two different HAE\u2010specific mutations in a large family not only explains the divergent phenotypes but also supports a genotype\u2010phenotype correlation showing that abdominal attacks and swelling of the extremities are common with HAE\u2010C1\u2010INH but unusual with HAE\u2010PLG.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ddg.14036","type":"journal-article","created":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T13:32:01Z","timestamp":1581946321000},"page":"215-223","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes"],"prefix":"10.1111","volume":"18","author":[{"given":"Konrad","family":"Bork","sequence":"first","affiliation":[{"name":"Department of Dermatology Johannes Gutenberg University  Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arne","family":"Zibat","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Georg August University of G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David M.","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Wollnik","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Georg August University of G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Sch\u00f6n","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Wulff","sequence":"additional","affiliation":[{"name":"University Medicine Ernst Moritz Arndt University  Greifswald Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Undine","family":"Lippert","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology University Medical Center G\u00f6ttingen  G\u00f6ttingen 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