Mutational analysis of the tumor-suppressor gene wt1 - detection of a novel homozygous point mutation in sporadic unilateral wilms-tumor.

The WT1 gene located on chromosome 11p13, has been identified as the first Wilms' tumor suppressor gene and has been implicated in the development of Wilms' tumor. About 10% of Wilms' tumors analyzed to date carry a mutation and only 6 different point mutations affecting the zinc finger region have been reported. We analyzed the zinc finger coding exons of 38 sporadic Wilms' tumor by SSCP and detected 2 point mutations. One homo/hemizygous mutation, already described in the literature, replaced an arginine in zinc finger II by a stop codon. The other mutation, a replacement of an arginine by a stop codon in zinc finger I, represents a novel mutation.