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JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
REVIEW
The Wilms tumour gene, WT1, in normal and abnormal nephrogenesis.
Pediatric Nephrology 1999 September
The Wilms tumour gene, WT1, has been shown to play an important role in normal development of the kidney and gonad. Constitutional mutations predispose to both malformation and childhood tumours of these organs. There is a genotype-phenotype correlation, with missense mutations producing more severe abnormalities than complete absence of one allele. Two syndromes with early-onset protein-losing nephropathy can be distinguished according to the type of WT1 mutation. Children with apparently isolated diffuse mesangial sclerosis may also be WT1 mutation carriers. WT1 is not the major gene mutated in Wilms tumour, but has given important insights into the molecular genetics of this childhood embryonal kidney cancer. Recommendations for management of children suspected of having a WT1 mutation are discussed.
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