A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome

Acta Paediatr Jpn. 1996 Jun;38(3):265-6. doi: 10.1111/j.1442-200x.1996.tb03483.x.

Abstract

An 11 month old boy with hypospadias and bilateral undescended testes developed renal failure. Denys-Drash syndrome was suspected and molecular analysis of the WT1 gene was performed, although no Wilms' tumor was identified. Direct sequencing analysis of genomic DNA from this patient revealed a G to A transition resulting in 366Arg to Leu substitution in exon 8 which has hitherto not been described. This newly identified mutation will help in the understanding of functional domains and in making a diagnosis of Denys-Drash syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis*
  • DNA-Binding Proteins / genetics*
  • Disorders of Sex Development / genetics*
  • Exons / genetics*
  • Genes, Tumor Suppressor / genetics*
  • Humans
  • Infant
  • Japan
  • Kidney Failure, Chronic / genetics*
  • Kidney Neoplasms / genetics*
  • Male
  • Sequence Analysis
  • Syndrome
  • Transcription Factors / genetics*
  • WT1 Proteins
  • Wilms Tumor / genetics*

Substances

  • DNA-Binding Proteins
  • Transcription Factors
  • WT1 Proteins