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Table of Contents
Vol. 121, No. 3-4, 2008
Issue release date: August 2008
Section title: Original Article
Cytogenet Genome Res 121:181–188 (2008)
(DOI:10.1159/000138883)

Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema

Göβwein T.a · Kocot A.a · Emmert G.a · Kreuz W.b · Martinez-Saguer I.b · Aygören-Pürsün E.b · Rusicke E.b · Bork K.c · Oldenburg J.a, d · Müller C.R.a
aDepartment of Human Genetics, University of Würzburg, Würzburg, bDepartment of Pediatrics III (Hematology and Oncology), Center of Hemophilia and Thrombosis, University Clinic Frankfurt, Frankfurt, cDepartment of Dermatology, Johannes Gutenberg University of Mainz, Mainz, dInstitute of Experimental Hematology and Transfusion Medicine, University Clinic Bonn, Bonn (Germany)

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Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: April 22, 2008
Published online: August 28, 2008
Issue release date: August 2008

Number of Print Pages: 8
Number of Figures: 3
Number of Tables: 6

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

Hereditary angioedema (HAE) is an autosomal dominant disease that manifests as intermittent acute swellings of the skin and mucosal surfaces, which, in the gastrointestinal tract and larynx, may even be fatal. HAE results from functional deficiency of the C1 inhibitor (C1INH) protein, which plays a key role in the classical pathway of complement activation. C1INH is the sole inhibitor of the activated proteases C1r and C1s, and is the major regulator of activated coagulation Factor XII and plasma kallikrein, which limits the generation of the vasoactive peptide bradykinin. In this paper, we report on the genetic analysis of 173 families (including 326 members) with a clinical diagnosis of HAE. Direct sequencing, Southern blotting and quantitative PCR by the MLPA method were used to screen for mutations in C1INH (SERPING1). In 142 families (82.1%), a causative C1INH gene mutation could be identified. A total of 80 novel point mutations of C1INH not published previously were detected in 96 pedigrees (including 172 members). Our results corroborate C1INH (SERPING1) deficiency as a disease of extreme allelic heterogeneity with almost each individual family carrying their own mutation. Routine molecular genetic analysis is an effective way of confirming the clinical diagnosis and identifying mutation carriers early on before any clinical manifestation becomes apparent. It is, therefore, a valuable tool in prevention and adequate treatment of acute and life-threatening oedema.

© 2008 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: April 22, 2008
Published online: August 28, 2008
Issue release date: August 2008

Number of Print Pages: 8
Number of Figures: 3
Number of Tables: 6

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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