Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome

Pei Wen Chiang, Sofia Aliaga, Sharon Travers, Elaine Spector, Anne Chun Hui Tsai

Research output: Contribution to journalArticle

11 Scopus citations


Denys-Drash syndrome is a rare genetic disorder featuring the triad of congenital nephropathy, Wilms tumor, and intersex disorders (XY under-virilization or XY female). Denys-Drash syndrome is associated with constitutional mutations in the Wilms tumor suppressor gene WT1. Unlike WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome, with its complete deletion of one copy of WT1, Denys-Drash syndrome is generally caused by a dominant-negative mutation. We present a new case of Denys-Drash syndrome in a patient initially diagnosed with XY ambiguous genitalia/partial androgen insensitivity syndrome, who was found to have a novel nonsense mutation in exon 6 leading to a stop codon and hence a truncated protein. Based on lessons learned from this patient, the diagnosis of Denys-Drash syndrome should be considered in the presence of ambiguous genitalia and partial androgen insensitivity.

Original languageEnglish (US)
Pages (from-to)103-106
Number of pages4
JournalCurrent Opinion in Pediatrics
Issue number1
StatePublished - Feb 1 2008



  • Androgen insensitivity
  • Denys - Drash syndrome
  • Nephrotic syndrome
  • WT1 mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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