Denys-Drash syndrome

Laimutis Kučinskas, Šarūnas Rudaitis¹, Birutė Pundzienė¹, Walter Just

Department of Human Genetics, Ulm University, Germany, ¹Clinic of Children’s Diseases, Kaunas University of Medicine, Lithuania

Key words: Denys-Drash syndrome, WT1 gene, missense mutations.

Summary. 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.

Correspondence to Š. Rudaitis, Clinic of Children’s Diseases, Kaunas University of Medicine, Eivenių 2, 50009 Kaunas, Lithuania. E-mail: rsarunas@one.lt

Received 12 August 2004, accepted 30 September 2004