Zinc finger point mutations within the WT1 gene in Wilms tumor patients

Abstract

A proposed Wilms tumor gene, WT1, which encodes a zinc finger protein, has previously been isolated from human chromosome 11p13. Chemical mismatch cleavage analysis was used to identify point mutations in the zinc finger region of this gene in a series of 32 Wilms tumors. Two exonic single base changes were detected. In zinc finger 3 of a bilateral Wilms tumor patient, a constitutional de novo C →T base change was found changing an arginine to a stop codon. One tumor from this patient showed allele loss leading to lip hemizygosity of the abnormal allele. In zinc finger 2 of a sporadic Wilms tumor patient, a C → T base change resulted in an arginine to cysteine amino acid change. To our knowl..