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Type: Artigo
Title: Wt1 Haploinsufficiency Supports Milder Renal Manifestation In Two Patients With Denys-drash Syndrome
Author: Guaragna
Mara S.; Ribeiro de Andrade
Juliana G.; Carli
Brbara de Freitas; Belangero
Vera M. S.; Maciel-Guerra
Andrea T.; Guerra-Junior
Gil; de Mello
Maricilda P.
Abstract: Denys-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.
Subject: Denys-drash Syndrome
Rna Decay
Editor: Karger
Citation: Sexual Development. Karger, v. 11, p. 34 - 39, 2017.
Rights: fechado
Identifier DOI: 10.1159/000454821
Date Issue: 2017
Appears in Collections:Unicamp - Artigos e Outros Documentos

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