Novel duplication in the F12 gene in a patient with recurrent angioedema
N Kiss, E Barabás, K Várnai, A Halász, LÁ Varga… - Clinical …, 2013 - Elsevier
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 …
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 …