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Type: Artigo de periódico
Title: The Novel WT1 Gene Mutation p.H377N Associated to Denys-Drash Syndrome
Author: Guaragna, MS
Soardi, FC
Assumpcao, JG
Zambaldi, LDG
Cardinalli, IA
Yunes, JA
de Mello, MP
Brandalise, SR
Aguiar, SD
Abstract: Denys-Drash syndrome (DDS, Online Mendelian Inheritance in Man number 194080) is a rare human developmental disease generally occurring in 46,XY individuals characterized by the combination of disorder of sex development, early onset nephropathy, and Wilms' tumor (WT). DDS is mainly caused by mutations in the WT1 gene. This report describes a novel WT1 gene mutation in a DDS patient. Sequencing the WT1 gene revealed a heterozygous transversion CAT > AAT within exon 8, causing the substitution of an asparagine for a histidine at residue 377. The p.H377N mutation is predicted to diminish the WT1 protein DNA-binding affinity as it might disrupt the normal zinc finger 2 conformation.
Subject: Denys-Drash syndrome
Wilms' Tumor
WT1 gene
disorder of sex development
Country: EUA
Editor: Lippincott Williams & Wilkins
Citation: Journal Of Pediatric Hematology Oncology. Lippincott Williams & Wilkins, v. 32, n. 6, n. 486, n. 488, 2010.
Rights: fechado
Identifier DOI: 10.1097/MPH.0b013e3181e5e20d
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

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