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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleNphs1 Gene Mutations Confirm Congenital Nephrotic Syndrome In Four Brazilian Cases: A Novel Mutation Is Described.pt_BR
dc.contributor.authorGuaragna, Mara Spt_BR
dc.contributor.authorCleto, Thaís Lirapt_BR
dc.contributor.authorSouza, Marcela Lopespt_BR
dc.contributor.authorLutaif, Anna Cristina G Bpt_BR
dc.contributor.authorde Castro, Luiz Cláudio Gonçalvespt_BR
dc.contributor.authorPenido, Maria Goretti Moreira Guimarãespt_BR
dc.contributor.authorMaciel-Guerra, Andréa Tpt_BR
dc.contributor.authorBelangero, Vera M Spt_BR
dc.contributor.authorGuerra-Junior, Gilpt_BR
dc.contributor.authorDe Mello, Maricilda Ppt_BR
unicamp.authorMara S Guaragna, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil.pt_BR
unicamp.authorMarcela Lopes Souza, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil.pt_BR
unicamp.authorAnna Cristina G B Lutaif, Nefrologia Pediátrica, Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil.pt_BR
unicamp.authorAndréa T Maciel-Guerra, Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil.pt_BR
unicamp.authorVera M S Belangero, Nefrologia Pediátrica, Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil.pt_BR
unicamp.authorGil Guerra-Junior, Grupo Interdisciplinar de Estudos da Determinação e Diferenciação do Sexo, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil. Centro de Investigação em Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil. Endocrinologia Pediátrica, Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil.pt_BR
unicamp.authorMaricilda P De Mello, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil.pt_BR
unicamp.author.externalThaís Lira Cleto, Serviço de Nefrologia do Hospital Universitário Pedro Ernesto, Rio de Janeiro, Brazil.pt
unicamp.author.externalLuiz Cláudio Gonçalves de Castro, Endocrinologia Pediátrica, Faculdade de Medicina, Universidade de Brasília, Brasília, Distrito Federal, Brazil.pt
unicamp.author.externalMaria Goretti Moreira Guimarães Penido, Departamento de Pediatria da Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brasil.pt
dc.subjectNphs1 Genept_BR
dc.subjectCongenital Nephrotic Syndromept_BR
dc.subjectNephrinpt_BR
dc.subjectNovel Mutationpt_BR
dc.description.abstractAutosomal recessive mutations in NPHS1 gene are a common cause of congenital nephrotic syndrome (CNS). The disorder is characterized by massive proteinuria that manifests in utero or in the neonatal period during the first 3 months of life. NPHS1 encodes nephrin, a member of the immunoglobulin family of cell adhesion molecules and the main protein expressed at the renal slit diaphragm. Currently, there are approximately 250 mutations described in NPHS1 gene distributed among all nephrin domains. The main objective of this study was to perform the analysis of NPHS1 gene in patients with congenital nephrotic syndrome in order to determine the molecular cause of the disease. We performed direct sequencing of NPHS1 gene in four children. Each patient was heterozygous for two pathogenic mutations disclosing the molecular cause of the disease in 100% of the cases. We identified six different mutations, consisting of one in-frame deletion, one frameshift, and four missense substitutions. The p.Val736Met mutation that is described here for the first time was considered pathogenic by different mutation predictive algorithms. Regardless of the type of mutation, three patients had a bad outcome and died. Despite the small size of the cohort, this study contributed to the increasing number of deleterious mutations in the NPHS1 gene by describing a new mutation. Also, since we identified NPHS1 pathogenic mutations as the cause of the disease in all cases analyzed, it might be a frequent cause of CNS in South Eastern region of Brazil, although the analysis of a larger sample is required to obtain more indicative epidemiological data.en
dc.relation.ispartofNephrology (carlton, Vic.)pt_BR
dc.relation.ispartofabbreviationNephrology (Carlton)pt_BR
dc.date.issued2015-Novpt_BR
dc.identifier.citationNephrology (carlton, Vic.). , 2015-Nov.pt_BR
dc.language.isoengpt_BR
dc.rightsembargopt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn1440-1797pt_BR
dc.identifier.doi10.1111/nep.12667pt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/26560236pt_BR
dc.date.available2016-05-23T19:40:18Z-
dc.date.accessioned2016-05-23T19:40:18Z-
dc.description.provenanceMade available in DSpace on 2016-05-23T19:40:18Z (GMT). No. of bitstreams: 1 pmed_26560236.pdf: 447476 bytes, checksum: e15a024ea5e448e6b41bcd892a3b9edc (MD5) Previous issue date: 2015en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/235257-
dc.identifier.idPubmed26560236pt_BR
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