Novel duplication in the F12 gene in a patient with recurrent angioedema

Nóra Kiss, Eszter Barabás, Katalin Várnai, Adrien Halász, Lilian Ágnes Varga, Zoltán Prohászka, Henriette Farkas, Ágnes Szilágyi

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

Edema formation is mediated by histamine or bradykinin release and may have several hereditary and acquired causes. In hereditary forms of bradykinin-mediated angioedemas, mutations in the genes encoding C1-inhibitor (. SERPING1) as well as coagulation factor XII (. F12) have been described. We present a novel F12 gene mutation, a duplication of 18 base pairs (c.892_909dup) in a 37-year-old woman with recurrent angioedema and normal C1-inhibitor level. A single episode of facial edema in the family of the patient showed co-segregation with the mutation. This duplication is causing the repeated presence of 6 amino acids (p.298-303) in the same region of factor XII, as those three mutations described previously in cases of hereditary angioedema with normal C1-INH function. These results may confirm the importance of the proline-rich region of factor XII protein in edema formation.

Original languageEnglish
Pages (from-to)142-145
Number of pages4
JournalClinical Immunology
Volume149
Issue number1
DOIs
Publication statusPublished - Oct 2013

Keywords

  • Angioedema
  • Factor XII
  • Mutation

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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