WT1 is a tumour suppressor gene expressed in a specific temporal and s
patial pattern in the developing kidney. Up to 15% of Wilms tumours ha
ve point mutations in the WT1 gene coding sequence. We have now invest
igated whether mutations in the WT1 promoter could be associated with
loss of control WT1 expression and subsequent Wilms tumour formation.
Using single-strand conformational polymorphism (SSCP) analysis we ana
lysed 39 sporadic Wilms tumours for WT1 promoter mutations. We found s
ix linked common sequence polymorphisms and two unlinked less frequent
polymorphisms which allowed us to identify four tumours with loss of
heterozygosity but none with point mutations, small deletions, inserti
ons or rearrangements. We therefore conclude that WT1 promoter mutatio
ns are unlikely to play an important role in Wilms tumorigenesis.