Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome

We report the identification of a novel Wilms tumor suppressor gene mutatio n in a 5-month-old girl who presented with unilateral Wilms tumor (WT) and renal diffuse mesangial sclerosis typical of Denys-Drash syndrome (DDS). Th e patient did not have ambiguous genitalia and the karyotype (by amniocente sis) was 46, XX. A de novo constitutional heterozygous 11 mutation in WT1 g ene exon 9 coding, for the third zinc-finger (1163G -->A, C388Y) was identi fied. This mutation affects a cysteine residue involved in the coordination of the zinc atom, confirming the importance of these residues in the biolo gical function of WT1 protein.