WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour

Jerry Pelletier, Wendy Bruening, Frederick P. Li, Daniel A. Haber, Thomas M Glaser, David E. Housman

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361 Scopus citations

Abstract

WILMS' tumour (WT), aniridia, genitourinary abnormalities and mental retardation form a symptom group (WAGR syndrome) associated with hemizygous deletions of DNA in chromosome band 11p13 (refs 1,2). However, it has not been clear whether hemizygosity at a single locus contributes to more than one phenotype. The tumour suppressor gene for Wilms' tumour, WT1, has been characterized3,4: it is expressed at high levels in the glomeruli of the kidney5, as well as the gonadal ridge of the developing gonad5, the Sertoli cells of the testis6 and the epithelial and granulosa cells of the ovary6, suggesting a developmental role in the genital system in addition to the kidney. We now report constitutional mutations within the WT1 genes of two individuals with a combination of WT and genital abnormalities as evidence of a role for a recessive oncogene in mammalian development.

Original languageEnglish (US)
Pages (from-to)431-434
Number of pages4
JournalNature
Volume353
Issue number6343
StatePublished - Oct 3 1991
Externally publishedYes

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    Pelletier, J., Bruening, W., Li, F. P., Haber, D. A., Glaser, T. M., & Housman, D. E. (1991). WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature, 353(6343), 431-434.