WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour
作者： Jerry Pelletier , Wendy Bruening , Frederick P. Li , Daniel A. Haber , Tom Glaser
DOI: 10.1038/353431A0
关键词: WAGR syndrome 、 Tumor suppressor gene 、 Cancer research 、 Mutation 、 Gonadal ridge 、 Biology 、 Aniridia 、 Denys–Drash syndrome 、 Wilms' tumor 、 Frasier syndrome
摘要: 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 single locus contributes to more than one phenotype. The suppressor gene for Wilms' tumour, WT1, characterized3,4: is expressed high levels the glomeruli kidney5, as well gonadal ridge developing gonad5, Sertoli cells testis6 epithelial granulosa ovary6, suggesting developmental role genital system addition kidney. We now report constitutional mutations within WT1 genes two individuals combination WT evidence recessive oncogene mammalian development.
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