Denys-Drash syndrome.
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.
Kucinskas
Laimutis
L
Department of Human Genetics, Ulm University, Germany.
Rudaitis
Sarūnas
S
Pundziene
Birute
B
Just
Walter
W
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
D025721:WT1 Proteins