Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria

dc.creatorGuaragna, MS
dc.creatorLutaif, ACGB
dc.creatorPiveta, CSC
dc.creatorBelangero, VMS
dc.creatorMaciel-Guerra, AT
dc.creatorGuerra, G
dc.creatorDe Mello, MP
dc.date2013
dc.date42309
dc.date2014-08-01T18:17:54Z
dc.date2015-11-26T17:03:06Z
dc.date2014-08-01T18:17:54Z
dc.date2015-11-26T17:03:06Z
dc.date.accessioned2018-03-28T23:51:12Z
dc.date.available2018-03-28T23:51:12Z
dc.identifierBiochemical And Biophysical Research Communications. Academic Press Inc Elsevier Science, v. 441, n. 2, n. 371, n. 376, 2013.
dc.identifier0006-291X
dc.identifier1090-2104
dc.identifierWOS:000327290100017
dc.identifier10.1016/j.bbrc.2013.10.064
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/76759
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/76759
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1279001
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionWilms' tumor type 1 gene (WT1) encodes a zinc-finger transcription factor that plays a key role during genitourinary development and in adult kidney. Mutations in exons 8 and 9 are associated with Denys-Drash Syndrome, whereas those occurring in the intron 9 donor splice site are associated with Frasier Syndrome. Familial cases of WT1 mutations are rare with only few cases described in the literature, whereas cases of WT1 mutations associated with isolated nephrotic proteinuria with or without focal segmental glomerular sclerosis (FSGS) are even rarer. Exons 8 and 9 of WT1 gene were analyzed in two non-related female patients and their parents. Patient 1, who presented with isolated nephrotic proteinuria and histologic pattern of FSGS, is heterozygous for the mutation c.1227 + 4C > T. This mutation was inherited from her mother, who had undergone kidney transplant due to FSGS. Patient 2 is heterozygous for the novel c.1178C > T transition inherited from her father. The putative effect of this nucleotide substitution on WT1 protein is p.Ser393Phe mutation located within the third zinc-finger domain. The patient and her father presented, respectively, isolated nephrotic proteinuria and chronic renal failure. These data highlight the importance of the inclusion of WT1 gene mutational analysis in patients with isolated nephrotic proteinuria, especially when similar conditions are referred to the family. (C) 2013 Elsevier Inc. All rights reserved.
dc.description441
dc.description2
dc.description371
dc.description376
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionCNPq [CNPq-478444/08-7, 141072/2010-5]
dc.descriptionFAPESP [FAPESP - 2012/51109-0]
dc.languageen
dc.publisherAcademic Press Inc Elsevier Science
dc.publisherSan Diego
dc.publisherEUA
dc.relationBiochemical And Biophysical Research Communications
dc.relationBiochem. Biophys. Res. Commun.
dc.rightsfechado
dc.rightshttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.sourceWeb of Science
dc.subjectGlomerulopathy
dc.subjectFamilial cases
dc.subjectWT1 gene
dc.subjectMutations
dc.subjectTranscription factor
dc.subjectWilms-tumor Gene
dc.subjectSplice-site Mutation
dc.subjectZinc-finger Domain
dc.subjectFrasier-syndrome
dc.subjectWilms-tumor-1 Gene
dc.subjectMissense Mutations
dc.subjectSteroid-resistant
dc.subject46,xx Female
dc.subjectNephropathy
dc.subjectProduct
dc.titleTwo distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria
dc.typeArtículos de revistas


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