Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development

Wendy Bruening, Nabeel Bardeesy, Bernard L. Silverman, Richard A. Cohn, Geoffrey A. Machin, Andrew J. Aronson, David Housman, Jerry Pelletier*

*Corresponding author for this work

Research output: Contribution to journalArticle

177 Scopus citations

Abstract

Denys–Drash syndrome is a rare human developmental disorder affecting the urogenital system and leading to renal failure, intersex disorders and Wilms' tumour. In this report, four individuals with this syndrome are described carrying germline point mutations in the Wilms' tumour suppressor gene, WT1. Three of these mutations were in the zinc finger domains of WT1. The fourth occurred within intron 9, preventing splicing at one of the alternatively chosen splice donor sites of exon 9 when assayed in vitro. These results provide genetic evidence for distinct functional roles of the WT1 isoforms in urogenital development.

Original languageEnglish (US)
Pages (from-to)144-148
Number of pages5
JournalNature Genetics
Volume1
Issue number2
DOIs
StatePublished - May 1992

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ASJC Scopus subject areas

  • Genetics

Cite this

Bruening, W., Bardeesy, N., Silverman, B. L., Cohn, R. A., Machin, G. A., Aronson, A. J., Housman, D., & Pelletier, J. (1992). Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. Nature Genetics, 1(2), 144-148. https://doi.org/10.1038/ng0592-144