INSERTIONAL INACTIVATION OF THE WT1 GENE IN TUMOR-CELLS FROM A PATIENT WITH WAGR SYNDROME

The WT1 gene was analysed using DNA from a Wilms' tumour derived from a patient with the WAGR syndrome using single strand conformation poly morphism analysis and polymerase chain reaction sequencing. A 14-bp in sertion was found in the intron part of the splice donor site of exon 7 and was a tandem duplication of an upstream exon sequence. This muta tion would be expected to disrupt the correct processing of the WT1 mR NA and is predicted to result in a non-functional protein. This observ ation further supports the role of WT1 in Wilms' tumorigenesis in pati ents with constitutional 11p13 deletions.