Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome

Agnieszka Swiatecka-Urban, Michele H. Mokrzycki, Frederick Kaskel, Francis Da Silva, E. Denamur

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


We report the identification of a novel Wilms tumor suppressor gene mutation in a 5-month-old girl who presented with unilateral Wilms tumor (WT) and renal diffuse mesangial sclerosis typical of Denys-Drash syndrome (DDS). The patient did not have ambiguous genitalia and the karyotype (by amniocentesis) was 46, XX. A de novo constitutional heterozygous mutation in WT1 gene exon 9 coding for the third zinc-finger (1163G→A, C388Y) was identified. This mutation affects a cysteine residue involved in the coordination of the zinc atom, confirming the importance of these residues in the biological function of WT1 protein.

Original languageEnglish (US)
Pages (from-to)627-630
Number of pages4
JournalPediatric Nephrology
Issue number8
StatePublished - 2001


  • Denys-Drash syndrome
  • Wilms tumor suppressor gene
  • Zinc-finger domain

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology


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