title: The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.
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.
authors.affiliation: Laboratório de Genética Molecular Humana, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas daggerLaboratório de Biologia Molecular, Centro Infantil Boldrini, Campinas, Sao Paulo, Brasil.
authors.forename: Mara Sanches
authors.initials: MS
authors.lastname: Guaragna
authors.forename: Fernanda Caroline
authors.initials: FC
authors.lastname: Soardi
authors.forename: Juliana Godoy
authors.initials: JG
authors.lastname: Assumpção
authors.forename: Lílian de Jesus Girotto
authors.initials: Lde J
authors.lastname: Zambaldi
authors.forename: Izilda Aparecida
authors.initials: IA
authors.lastname: Cardinalli
authors.forename: José Andrés
authors.initials: JA
authors.lastname: Yunes
authors.forename: Maricilda Palandi
authors.initials: MP
authors.lastname: de Mello
authors.forename: Silvia Regina
authors.initials: SR
authors.lastname: Brandalise
authors.forename: Simone dos Santos
authors.initials: Sdos S
authors.lastname: Aguiar
mesh_terms: D030321:Denys-Drash Syndrome / Q000150:complications / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics; D017809:Fatal Outcome; D016162:Genes, Wilms Tumor; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007680:Kidney Neoplasms / Q000235:genetics; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D009396:Wilms Tumor / Q000235:genetics