A NEWLY IDENTIFIED EXONIC MUTATION OF THE WT1 GENE IN A PATIENT WITH DENYS-DRASH SYNDROME

An 11 month old boy with hypospadias and bilateral undescended testes developed renal failure. Denys-Drash syndrome was suspected and molecu lar analysis of the WT1 gene was performed, although no Wilms' tumor w as identified. Direct sequencing analysis of genomic DNA from this pat ient revealed a G to A transition resulting in (366)Arg to Leu substit ution in exon 8 which has hitherto not been described. This newly iden tified mutation will help in the understanding of functional domains a nd in making a diagnosis of Denys-Drash syndrome.