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: Min Hu, Jonathon Craig, Neville Howard, Alex Kan, Jeffrey Chaitow, Dianne Little, Stephen I Alexander
• Journal: Pediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 19 Issue 10 Pg. 1160-3 (Oct 2004) ISSN: 0931-041X [Print] Germany
• PMID: 15349765 (Publication Type: Case Reports, Journal Article)

Topics

• Denys-Drash Syndrome (complications, genetics)
• Disorders of Sex Development (diagnosis, genetics)
• Fatal Outcome
• Female
• Genes, Wilms Tumor
• Humans
• Infant
• Mutation
• Pyloric Stenosis, Hypertrophic (complications, congenital)
• Renal Insufficiency (etiology)