Hereditary angioedema in Greek families caused by novel and recurrent mutations

Matthaios Speletas, Konstantinos Boukas, Efimia Papadopoulou-Alataki, Elena Tsitsami, Anastasios E. Germenis

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

This study constitutes the first molecular analysis of hereditary angioedema (HAE) in Greece, where 11 patients from three unrelated families with recurrent angioedema attacks and decreased C1 inhibitor antigenic levels were analyzed for SERPING1 mutations. Interestingly, one family displayed a novel SERPING1 alteration, characterized by the substitution of two consecutive nucleotides TC to AA, resulting in a termination codon (F225X). To the best of our knowledge, this is the first report of such a mutation in SERPING1, causing HAE. The second family displayed the nonsense mutation W482X, and the third the missense mutation M1V, 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. Our study identified a novel mutagenesis mechanism for HAE pathogenesis, providing additional evidence for the genetic heterogeneity of the disease.

Original languageEnglish (US)
Pages (from-to)925-929
Number of pages5
JournalHuman Immunology
Volume70
Issue number11
DOIs
StatePublished - Nov 1 2009

Keywords

  • Dinucleotide mutation
  • Hereditary angioedema
  • SERPING1

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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    Speletas, M., Boukas, K., Papadopoulou-Alataki, E., Tsitsami, E., & Germenis, A. E. (2009). Hereditary angioedema in Greek families caused by novel and recurrent mutations. Human Immunology, 70(11), 925-929. https://doi.org/10.1016/j.humimm.2009.08.010