title: A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis.
abstract: We report a novel mutation in WT1 exon 9 (1214 A>G) resulting in an amino acid change from H to R at codon 405 in a 46 XY female patient who had congenital hypertrophic pyloric stenosis, pseudohermaphroditism masculinus, renal failure, and Wilms tumor, and died at the age of 22 months. The patient demonstrated the difficulty in diagnosing a patient with intersex before conclusive genetic characterization.
authors.affiliation: Centre for Kidney Research, Department of Nephrology, The Children's Hospital at Westmead, New South Wales, Australia.
authors.forename: Min
authors.initials: M
authors.lastname: Hu
authors.forename: Jonathon
authors.initials: J
authors.lastname: Craig
authors.forename: Neville
authors.initials: N
authors.lastname: Howard
authors.forename: Alex
authors.initials: A
authors.lastname: Kan
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Chaitow
authors.forename: Dianne
authors.initials: D
authors.lastname: Little
authors.forename: Stephen I
authors.initials: SI
authors.lastname: Alexander
mesh_terms: D030321:Denys-Drash Syndrome / Q000150:complications / Q000235:genetics*; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D016162:Genes, Wilms Tumor; D006801:Humans; D007223:Infant; D009154:Mutation; D046248:Pyloric Stenosis, Hypertrophic / Q000150:complications / Q000151:congenital; D051437:Renal Insufficiency / Q000209:etiology