Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome.

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.

• Authors: A Santos, L Osorio-Almeida, P N Baird, J M Silva, M G Boavida, J Cowell
• Journal: Human genetics (Hum Genet) Vol. 92 Issue 1 Pg. 83-6 (Aug 1993) ISSN: 0340-6717 [Print] Germany
• PMID: 8396067 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA

Topics

• Abnormalities, Multiple (genetics)
• Alleles
• Base Sequence
• Child, Preschool
• Chromosomes, Human, Pair 11
• DNA
• Female
• Gene Deletion
• Genes, Wilms Tumor
• Humans
• Molecular Sequence Data
• Mutation
• Polymerase Chain Reaction
• Syndrome
• Tumor Cells, Cultured
• Wilms Tumor (genetics)