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

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

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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
Volume16
Issue number8
DOIs
StatePublished - 2001

Fingerprint

Denys-Drash Syndrome
Wilms' Tumor Genes
Genetic Suppression
Disorders of Sex Development
Mutation
Amniocentesis
Wilms Tumor
Zinc Fingers
Tumor Suppressor Genes
Karyotype
Cysteine
Zinc
Exons
Kidney
Genes
Proteins

Keywords

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

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. / Swiatecka-Urban, Agnieszka; Mokrzycki, Michele H.; Kaskel, Frederick J.; Da Silva, Francis; Denamur, E.

In: Pediatric Nephrology, Vol. 16, No. 8, 2001, p. 627-630.

Research output: Contribution to journalArticle

Swiatecka-Urban, Agnieszka ; Mokrzycki, Michele H. ; Kaskel, Frederick J. ; Da Silva, Francis ; Denamur, E. / Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. In: Pediatric Nephrology. 2001 ; Vol. 16, No. 8. pp. 627-630.
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