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In utero nephropathy, Denys-Drash syndrome and Potter phenotype
E F Maalouf1, J Ferguson, V van Heyningen
1Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, London, UK.
Pediatric Nephrology (Berlin, Germany)
|September 24, 1998
Abstract:
We report an unusual case of Denys-Drash syndrome presenting in a newborn infant with end-stage renal failure of antenatal origin and Potter phenotype. DNA analysis showed a novel missense change in arginine 394 of zinc finger 3 of the WT1 gene. This mutation may lead to an earlier and more severe presentation of Denys-Drash syndrome. It may be of interest to look for this mutation in other Potter phenotype cases.