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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authoremailmara.guaragna@gmail.compt_BR
dc.typeArtigopt_BR
dc.titleWt1 Haploinsufficiency Supports Milder Renal Manifestation In Two Patients With Denys-drash Syndromeen
dc.contributor.authorGuaragnapt_BR
dc.contributor.authorMara S.; Ribeiro de Andradept_BR
dc.contributor.authorJuliana G.; Carlipt_BR
dc.contributor.authorBrbara de Freitas; Belangeropt_BR
dc.contributor.authorVera M. S.; Maciel-Guerrapt_BR
dc.contributor.authorAndrea T.; Guerra-Juniorpt_BR
dc.contributor.authorGil; de Mellopt_BR
dc.contributor.authorMaricilda P.pt_BR
unicamp.authorde Mello, Maricilda P.] Univ Estadual Campinas, UNICAMP, CBMEG, Ctr Mol Biol & Genet Engn, Campinas, SP, Brazilpt_BR
unicamp.authorMaciel-Guerra, Andrea T.] Univ Estadual Campinas, UNICAMP, Dept Med Genet, Campinas, SP, Brazilpt_BR
unicamp.authorGuerra-Junior, Gil] Univ Estadual Campinas, UNICAMP, GIEDDS, Interdisciplinary Grp Study Sex Determinat & Diff, Campinas, SP, Brazilpt_BR
unicamp.author[Belangero, Vera M. S.] Univ Estadual Campinas, UNICAMP, CIN, Integrated Ctr Pediat Nephrol, Campinas, SP, Brazilpt_BR
unicamp.author[Guerra-Junior, Gil] Univ Estadual Campinas, UNICAMP, Sch Med Sci, Dept Pediat,Pediat Endocrinol,FCM, Campinas, SP, Brazilpt_BR
unicamp.author.external[Guaragna, Mara S.pt_BR
unicamp.author.externalCarli, Brbara de Freitaspt_BR
unicamp.author.external[Ribeiro de Andrade, Juliana G.pt_BR
unicamp.author.external[Ribeiro de Andrade, Juliana G.pt_BR
unicamp.author.externalMaciel-Guerra, Andrea T.pt_BR
dc.subjectDenys-drash Syndromeen
dc.subjectHaploinsufficiencyen
dc.subjectRna Decayen
dc.subjectWt1en
dc.description.abstractDenys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms' tumor. DDS patients usually present heterozygous de novo germline WT1 mutations. The WT1 gene comprises 10 exons encoding the N-terminal transactivation and the C-terminal DNA-binding regions. Two unrelated patients with genital ambiguity and Wilms' tumor were analyzed by sequencing of the WT1 gene, and 3 mutations in exon 1 were identified of which 2 are novel. Patient 1 carried a c.555delC mutation that causes a frameshift and a premature stop codon. Patient 2 carried both c.421A>C and c. 424C>T aberrations that lead to the missense p.Lys141Gln and the nonsense p. Lys142 * mutation, respectively. As both patients were heterozygous for the mutations, we tested their parents who did not carry any mutation. Therefore, the 3 WT1 mutations occurred de novo in both patients. Heterozygous mutations result in WT1 haploinsufficiency as they impair protein production. They are associated with a milder DDS phenotype as observed in the patients studied here.en
dc.relation.ispartofSexual Developmentpt_BR
dc.publisherKargerpt_BR
dc.publisherBaselpt_BR
dc.date.issued2017pt_BR
dc.identifier.citationSexual Development. Karger, v. 11, p. 34 - 39, 2017.pt_BR
dc.language.isoEnglishpt_BR
dc.description.volume11pt_BR
dc.description.issuenumber1pt_BR
dc.description.firstpage34pt_BR
dc.description.lastpage39pt_BR
dc.rightsfechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn1661-5425pt_BR
dc.identifier.eissn1661-5433pt_BR
dc.identifier.wosidWOS:000395907200004pt_BR
dc.identifier.doi10.1159/000454821pt_BR
dc.identifier.urlhttps://www.karger.com/?DOI=10.1159/000454821pt_BR
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo [FAPESP-2012/51109-0]pt_BR
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e Tecnologico [CNPq-478444/08-7, 141072/2010]pt_BR
dc.description.sponsorship1Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)pt_BR
dc.description.sponsorship1Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)pt_BR
dc.date.available2017-11-13T13:23:22Z-
dc.date.accessioned2017-11-13T13:23:22Z-
dc.description.provenanceMade available in DSpace on 2017-11-13T13:23:22Z (GMT). No. of bitstreams: 1 000395907200004.pdf: 1253150 bytes, checksum: 9d58c759dac08d5f13871ac0024747c6 (MD5) Previous issue date: 2017en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/328080-
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