A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

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dc.contributor.authorFerraro, M. F.
dc.contributor.authorMoreno, A. S.
dc.contributor.authorCastelli, E. C.
dc.contributor.authorDonadi, E. A.
dc.contributor.authorPalma, Mario Sergio [UNESP]
dc.contributor.authorArcuri, H. A. [UNESP]
dc.contributor.authorLange, A. P.
dc.contributor.authorBork, K.
dc.contributor.authorSarti, W.
dc.contributor.authorArruda, L. K.
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Federal de Goiás (UFG)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionJohannes Gutenberg Univ Mainz
dc.date.accessioned2014-05-20T13:55:11Z
dc.date.available2014-05-20T13:55:11Z
dc.date.issued2011-10-01
dc.description.abstractBackground: Hereditary angioedema is an autosomal dominant disease characterized by episodes of subcutaneous and submucosal edema. It is caused by deficiency of the C1 inhibitor protein, leading to elevated levels of bradykinin. More than 200 mutations in C1 inhibitor gene have been reported. The aim of this study was to analyze clinical features of a large family with an index case of hereditary angioedema and to determine the disease-causing mutation in this family.Methods: Family pedigree was constructed with 275 individuals distributed in five generations. One hundred and sixty-five subjects were interviewed and investigated for mutation at the C1 inhibitor gene. Subjects reporting a history of recurrent episodes of angioedema and/or abdominal pain attacks underwent evaluation for hereditary angioedema.Results: We have identified a novel mutation at the C1 inhibitor gene, c.351delC, which is a single-nucleotide deletion of a cytosine on exon 3, resulting in frameshift with premature stop codon. Sequencing analysis of the hypothetical truncated C1 inhibitor protein allowed us to conclude that, if transcription occurs, this protein has no biological activity. Twenty-eight members of the family fulfilled diagnostic criteria for hereditary angioedema and all of them presented the c.351delC mutation. Variation in clinical presentation and severity of disease was observed among these patients. One hundred and thirty-seven subjects without hereditary angioedema did not have the c.351delC mutation.Conclusion: The present study provides definitive evidence to link a novel genetic mutation to the development of hereditary angioedema in patients from a Brazilian family.en
dc.description.affiliationUniv São Paulo, Sch Med Ribeirao Preto, Dept Pediat, BR-14049900 Ribeirao Preto, SP, Brazil
dc.description.affiliationUniv São Paulo, Sch Med Ribeirao Preto, Dept Med, BR-14049900 Ribeirao Preto, SP, Brazil
dc.description.affiliationUniversidade Federal de Goiás (UFG), Inst Biol Sci, Mol Genet & Cytogenet Lab, Goiania, Go, Brazil
dc.description.affiliationSão Paulo State Univ, Inst Biosci Rio Claro, CEIS, Dept Biol, Rio Claro, Brazil
dc.description.affiliationJohannes Gutenberg Univ Mainz, Dept Dermatol, Mainz, Germany
dc.description.affiliationUnespSão Paulo State Univ, Inst Biosci Rio Claro, CEIS, Dept Biol, Rio Claro, Brazil
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipFundação de Apoio ao Ensino, Pesquisa e Assistência do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da USP (FAEPA)
dc.description.sponsorshipMantecorp
dc.format.extent1384-1390
dc.identifierhttp://dx.doi.org/10.1111/j.1398-9995.2011.02658.x
dc.identifier.citationAllergy. Malden: Wiley-blackwell, v. 66, n. 10, p. 1384-1390, 2011.
dc.identifier.doi10.1111/j.1398-9995.2011.02658.x
dc.identifier.issn0105-4538
dc.identifier.lattes2901888624506535
dc.identifier.urihttp://hdl.handle.net/11449/19745
dc.identifier.wosWOS:000294897700014
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAllergy
dc.relation.ispartofjcr6.048
dc.relation.ispartofsjr2,702
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.subjectbradykininen
dc.subjectC1 inhibitoren
dc.subjectcomplementen
dc.subjecthereditary angioedemaen
dc.subjectserine protease inhibitorsen
dc.titleA single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian familyen
dc.typeArtigo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dcterms.rightsHolderWiley-blackwell
unesp.author.lattes2901888624506535
unesp.author.orcid0000-0002-9457-9601[4]
unesp.author.orcid0000-0003-3478-7414[2]
unesp.author.orcid0000-0002-7505-210X[10]
unesp.author.orcid0000-0002-7363-8211[5]
unesp.author.orcid0000-0003-2142-7196[3]
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências, Rio Claropt

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