Wt1 Haploinsufficiency Supports Milder Renal Manifestation In Two Patients With Denys-drash Syndrome

dc.creatorGuaragna
dc.creatorMara S.; Ribeiro de Andrade
dc.creatorJuliana G.; Carli
dc.creatorBrbara de Freitas; Belangero
dc.creatorVera M. S.; Maciel-Guerra
dc.creatorAndrea T.; Guerra-Junior
dc.creatorGil; de Mello
dc.creatorMaricilda P.
dc.date2017
dc.date2017-11-13T13:23:22Z
dc.date2017-11-13T13:23:22Z
dc.date.accessioned2018-03-29T05:56:00Z
dc.date.available2018-03-29T05:56:00Z
dc.identifierSexual Development. Karger, v. 11, p. 34 - 39, 2017.
dc.identifier1661-5425
dc.identifier1661-5433
dc.identifierWOS:000395907200004
dc.identifier10.1159/000454821
dc.identifierhttps://www.karger.com/?DOI=10.1159/000454821
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/328080
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1365105
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionDenys-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.
dc.description11
dc.description1
dc.description34
dc.description39
dc.descriptionFundacao de Amparo a Pesquisa do Estado de Sao Paulo [FAPESP-2012/51109-0]
dc.descriptionConselho Nacional de Desenvolvimento Cientifico e Tecnologico [CNPq-478444/08-7, 141072/2010]
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.languageEnglish
dc.publisherKarger
dc.publisherBasel
dc.relationSexual Development
dc.rightsfechado
dc.sourceWOS
dc.subjectDenys-drash Syndrome
dc.subjectHaploinsufficiency
dc.subjectRna Decay
dc.subjectWt1
dc.titleWt1 Haploinsufficiency Supports Milder Renal Manifestation In Two Patients With Denys-drash Syndrome
dc.typeArtículos de revistas


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