Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/56108
Title: Genetic analysis of hereditary angioedema in a Brazilian family by targeted next generation sequencing
Authors: Veronez, Camila Lopes [UNIFESP]
Silva, Elton Dias da [UNIFESP]
Teixeira, Patricia Varela Lima [UNIFESP]
Cagini, Nathalia [UNIFESP]
Constantino-Silva, Rosemeire Navickas
Grumach, Anete Sevciovic
Mansour, Eli
Velloso, Licio A.
Pesquero, João Bosco [UNIFESP]
Keywords: bradykinin
kininogen
kinin B2 receptor
nitric oxide synthase
Issue Date: 2016
Publisher: Walter De Gruyter Gmbh
Citation: Biological Chemistry. Berlin, v. 397, n. 4, p. 315-322, 2016.
Abstract: Hereditary 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.
URI: https://repositorio.unifesp.br/handle/11600/56108
ISSN: 1431-6730
Other Identifiers: http://dx.doi.org/10.1515/hsz-2015-0212
Appears in Collections:Artigo

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.