Abstract
The WT1 gene was analysed using DNA from a Wilms' tumour derived from a patient with the WAGR syndrome using single strand conformation polymorphism analysis and polymerase chain reaction sequencing. A 14-bp insertion 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 mutation would be expected to disrupt the correct processing of the WT1 mRNA and is predicted to result in a non-functional protein. This observation further supports the role of WT1 in Wilms' tumorigenesis in patients with constitutional 11p13 deletions.
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References
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Santos, A., Osorio-Almeida, L., Baird, P.N. et al. Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. Hum Genet 92, 83–86 (1993). https://doi.org/10.1007/BF00216151
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DOI: https://doi.org/10.1007/BF00216151