IDENTIFICATION OF A NEW WT1 MUTATION IN A SPORADIC WILMS-TUMOR

A new mutation in WT1 is described in a sporadic unilateral Wilms' tum our consisting of a 17 bp duplication in exon 7 generating a stop codo n. The second allele is either partially deleted or presents the same alteration. LOH analysis at 11p15.5 and at the 16q13-16q24.3 regions i ndicated retention of heterozygosity in the tumour DNA for the markers analysed. The results are consistent with Knudson's hypothesis and co nfirm that loss of function of WT1 contributes to the development of a t least some Wilms' tumours. (C) 1998 Elsevier Science B.V. All rights reserved.