Novel mutagenesis mechanism for hereditary angioedema pathogenesis

In a recent study done by a group of Greek researchers 3 unrelated families with recurrent angioedema attacks and decreased C1 inhibitor antigenic levels were analyzed for SERPING1 mutations. One family displayed a novel SERPING1 alteration, characterized by the substitution of two consecutive nucleotides TC to AA, resulting in a termination codon (F225X). The authors consider that this is the first report of such a mutation in SERPING1, causing HAE. The second and the third family displayed mutations already described in the literature. The type of mutation did not predict clearly the disease phenotype, since even members of the same family displayed a variety of the frequency and the severity of angioedema attacks. This first molecular analysis of hereditary angioedema in Greece provides additional evidence for the genetic heterogeneity of the disease.

PMID: 19706314 / Speletas M, Boukas K, Papadopoulou-Alataki E, Tsitsami E, Germenis AE. Hum Immunol. 2009 Aug 22.

Last update: 09.03.2009