title: Denys-Drash syndrome.
abstract: Constitutional missense mutations in the WT1 gene are usually associated with Denys-Drash syndrome. This rare syndrome is characterized by a rapid progressive nephropathy, male pseudohermaphroditism, and an increased risk for Wilms tumor. We report on a patient with incomplete Denys-Drash syndrome, which was evident by the clinical data and proved by molecular genetics methods. The patient has the mutation p.R394W in the WT1 gene and clinical symptoms of Denys-Drash syndrome.
authors.affiliation: Department of Human Genetics, Ulm University, Germany.
authors.forename: Laimutis
authors.initials: L
authors.lastname: Kucinskas
authors.forename: Sarūnas
authors.initials: S
authors.lastname: Rudaitis
authors.forename: Birute
authors.initials: B
authors.lastname: Pundziene
authors.forename: Walter
authors.initials: W
authors.lastname: Just
mesh_terms: D030321:Denys-Drash Syndrome / Q000175:diagnosis / Q000235:genetics; D005091:Exons; D005260:Female; D016162:Genes, Wilms Tumor; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D025721:WT1 Proteins / Q000235:genetics
chemical_list: D025721:WT1 Proteins