Genetic analysis of hereditary angioedema in a Brazilian family by targeted next generation sequencing

dc.citation.issue4
dc.citation.volume397
dc.contributor.authorVeronez, Camila Lopes [UNIFESP]
dc.contributor.authorSilva, Elton Dias da [UNIFESP]
dc.contributor.authorTeixeira, Patricia Varela Lima [UNIFESP]
dc.contributor.authorCagini, Nathalia [UNIFESP]
dc.contributor.authorConstantino-Silva, Rosemeire Navickas
dc.contributor.authorGrumach, Anete Sevciovic
dc.contributor.authorMansour, Eli
dc.contributor.authorVelloso, Licio A.
dc.contributor.authorPesquero, João Bosco [UNIFESP]
dc.coverageBerlin
dc.date.accessioned2020-07-22T13:23:13Z
dc.date.available2020-07-22T13:23:13Z
dc.date.issued2016
dc.description.abstractHereditary angioedema (HAE) is accompanied by an overproduction of bradykinin (BK) as the primary mediator of swelling. Although many proteins may be involved in regulating the wide spectrum of HAE symptoms, most studies have only focused on C1-INH and FXII. For the first time, a next generation sequencing (NGS) method was applied to develop a robust, time- and cost-effective diagnostic and research tool to analyze selected genes related to HAE. The entire coding region and the exon-intron boundaries of 15 genes from 23 subjects of a Brazilian family, nine of whom were symptomatic, were analyzed by NGS. One new mutation found uniquely in the nine symptomatic patients, p.Ala457Pro in the SERPING1 gene, was estimated as likely to be pathogenic -(PolyPhen-2 software analysis) and is the main candidate to be responsible for HAE in these patients. Alterations identified in a few asymptomatic individuals but also found in almost all symptomatic patients, such as p.Ile197Met (HMWK), p. Glu298Asp (NOS3) and p.Gly354Glu (B2R), may also be involved in modulating patient-specific symptoms. This NGS gene panel has proven to be a valuable tool for a quick and accurate molecular diagnosis of HAE and efficient to indicate modulators of HAE symptoms.en
dc.description.affiliationFed Univ Sao Paulo UNIFESP, Dept Biophys, Rua Pedro Toledo 669,9 Andar, BR-04039032 Sao Paulo, Brazil
dc.description.affiliationFac Med ABC, Av Principe Gales 821, Santo Andre, Brazil
dc.description.affiliationUniv Estadual Campinas, Dept Internal Med, UNICAMP, Rua Vital Brazil 251,Cidade Univ, BR-13083888 Campinas, SP, Brazil
dc.description.affiliationUnifespFed Univ Sao Paulo UNIFESP, Dept Biophys, Rua Pedro Toledo 669,9 Andar, BR-04039032 Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent315-322
dc.identifierhttp://dx.doi.org/10.1515/hsz-2015-0212
dc.identifier.citationBiological Chemistry. Berlin, v. 397, n. 4, p. 315-322, 2016.
dc.identifier.doi10.1515/hsz-2015-0212
dc.identifier.issn1431-6730
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/56108
dc.identifier.wosWOS:000374975000005
dc.language.isoeng
dc.publisherWalter De Gruyter Gmbh
dc.relation.ispartofBiological Chemistry
dc.relation.ispartofInternational Meeting on Kinin System and Peptide Receptors
dc.rightsAcesso restrito
dc.subjectbradykininen
dc.subjectkininogenen
dc.subjectkinin B2 receptoren
dc.subjectnitric oxide synthaseen
dc.titleGenetic analysis of hereditary angioedema in a Brazilian family by targeted next generation sequencingen
dc.typeArtigo
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