title: Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
abstract: Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease caused by mutations in the C1 inhibitor gene SERPING1. Phenotype and clinical features of the disease are extremely heterogeneous, varying even within the same family. Compared to HAE cohorts in other countries, the genetic background of the Swiss HAE patients has not yet been elucidated. In the present study we investigated the mutational spectrum of the SERPING1 gene in 19 patients of nine unrelated Swiss families. The families comprise a total of 111 HAE-affected subjects which corresponds to approximately 70% of all HAE-affected patients living in Switzerland. Three of the identified mutations are newly described. Members of family A with a nucleotide duplication as genetic background seem to have a more intense disease manifestation with a higher attack frequency compared to the other families. Newly designed genetic screening tests allow a fast and cost-efficient testing for HAE in other family members.
authors.affiliation: Department of Clinical Immunology, University Hospital Zurich, Zurich, Switzerland.
authors.forename: U C
authors.identifier: 0000-0002-3905-2508
authors.initials: UC
authors.lastname: Steiner
authors.affiliation: Division of Medical Microbiology, Kantonsspital Lucerne, Lucerne, Switzerland.|Division of Hematology and Central Hematology Laboratory, Department of Internal Medicine, Kantonsspital Lucerne, Lucerneand University of Berne, Berne, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Keller
authors.affiliation: Division of Hematology and Central Hematology Laboratory, Department of Internal Medicine, Kantonsspital Lucerne, Lucerneand University of Berne, Berne, Switzerland.
authors.forename: P
authors.initials: P
authors.lastname: Schmid
authors.affiliation: Division of Medical Genetics, University Hospital Basel, Basel, Switzerland.|Department of Biomedicine, University of Basel, Basel, Switzerland.
authors.forename: S
authors.initials: S
authors.lastname: Cichon
authors.affiliation: Division of Hematology and Central Hematology Laboratory, Department of Internal Medicine, Kantonsspital Lucerne, Lucerneand University of Berne, Berne, Switzerland.
authors.forename: W A
authors.initials: WA
authors.lastname: Wuillemin
mesh_terms: D000328:Adult; D000368:Aged; D054179:Angioedemas, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D013557:Switzerland; D055815:Young Adult
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human
keywords: Swiss HAE cohort; families; genetic analysis; hereditary angioedema (HAE)