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

Division of Pediatric Nephrology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA.

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

PMID: 11519891 [PubMed - indexed for MEDLINE]