Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/198907
Type: Artigo de periódico
Title: The Novel Wt1 Gene Mutation P.h377n Associated To Denys-drash Syndrome.
Author: Guaragna, Mara Sanches
Soardi, Fernanda Caroline
Assumpção, Juliana Godoy
Zambaldi, Lílian de Jesus Girotto
Cardinalli, Izilda Aparecida
Yunes, José Andrés
de Mello, Maricilda Palandi
Brandalise, Silvia Regina
Aguiar, Simone dos Santos
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
Disorders Of Sex Development
Fatal Outcome
Genes, Wilms Tumor
Humans
Infant
Infant, Newborn
Kidney Neoplasms
Male
Point Mutation
Polymerase Chain Reaction
Wilms Tumor
Rights: fechado
Identifier DOI: 10.1097/MPH.0b013e3181e5e20d
Address: http://www.ncbi.nlm.nih.gov/pubmed/20562648
Date Issue: 2010
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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