title: In utero nephropathy, Denys-Drash syndrome and Potter phenotype.
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.
authors.affiliation: Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, London, UK.
authors.forename: E F
authors.initials: EF
authors.lastname: Maalouf
authors.forename: J
authors.initials: J
authors.lastname: Ferguson
authors.forename: V
authors.initials: V
authors.lastname: van Heyningen
authors.forename: N
authors.initials: N
authors.lastname: Modi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D004247:DNA / Q000032:analysis / Q000235:genetics; D017809:Fatal Outcome; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007676:Kidney Failure, Chronic / Q000151:congenital* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D016133:Polymerase Chain Reaction; D013577:Syndrome
chemical_list: D004247:DNA