Pediatric Nephrology

, Volume 19, Issue 10, pp 1160–1163 | Cite as

A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis

  • Min Hu
  • Jonathon Craig
  • Neville Howard
  • Alex Kan
  • Jeffrey Chaitow
  • Dianne Little
  • Stephen I. AlexanderEmail author
Brief Report


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.


Denys-Drash syndrome Frasier syndrome Missense mutation Wilms tumor 


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Copyright information

© IPNA 2004

Authors and Affiliations

  • Min Hu
    • 1
  • Jonathon Craig
    • 1
  • Neville Howard
    • 2
  • Alex Kan
    • 3
  • Jeffrey Chaitow
    • 4
  • Dianne Little
    • 5
  • Stephen I. Alexander
    • 1
    • 6
    Email author
  1. 1.Centre for Kidney Research, Department of NephrologyThe Children’s Hospital at WestmeadAustralia
  2. 2.Institute of Endocrinology and DiabetesThe Children’s Hospital at WestmeadAustralia
  3. 3.Department of PathologyThe Children’s Hospital at WestmeadAustralia
  4. 4.Department of RheumatologyThe Children’s Hospital at WestmeadAustralia
  5. 5.Department of Forensic MedicineICPMRWestmeadAustralia
  6. 6.Centre for Kidney Research, The Department of NephrologyThe Children’s Hospital at WestmeadWestmeadAustralia

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