The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.
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.
Guaragna
Mara Sanches
MS
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.
Soardi
Fernanda Caroline
FC
Assumpção
Juliana Godoy
JG
Zambaldi
Lílian de Jesus Girotto
Lde J
Cardinalli
Izilda Aparecida
IA
Yunes
José Andrés
JA
de Mello
Maricilda Palandi
MP
Brandalise
Silvia Regina
SR
Aguiar
Simone dos Santos
Sdos S
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