Diaphragmatic hernia in Denys-Drash syndrome

Am J Med Genet. 1995 May 22;57(1):97-101. doi: 10.1002/ajmg.1320570120.

Abstract

We report on a newborn infant with male pseudohermaphroditism and glomerular lesions (Denys-Drash syndrome) but without Wilms tumor. A constitutional heterozygous mutation in the WT1 gene (366Arg to His) was identified. In addition the child had a large diaphragmatic hernia, so far not described in Denys-Drash syndrome. The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggests that the diaphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations.

Publication types

  • Case Reports

MeSH terms

  • Animals
  • Arginine
  • Base Sequence
  • Chromosomes, Human, Pair 11
  • DNA-Binding Proteins / genetics*
  • Disorders of Sex Development / complications
  • Disorders of Sex Development / genetics*
  • Exons
  • Female
  • Gene Deletion
  • Genes, Tumor Suppressor*
  • Gonadal Dysgenesis / genetics*
  • Gonadal Dysgenesis / pathology
  • Hernia, Diaphragmatic / complications
  • Hernia, Diaphragmatic / genetics*
  • Hernia, Diaphragmatic / pathology
  • Heterozygote
  • Histidine
  • Homozygote
  • Humans
  • Infant, Newborn
  • Kidney Glomerulus / abnormalities
  • Kidney Glomerulus / pathology*
  • Mice
  • Mice, Transgenic
  • Molecular Sequence Data
  • Ovary / pathology
  • Point Mutation*
  • Syndrome
  • Transcription Factors / genetics*
  • WT1 Proteins

Substances

  • DNA-Binding Proteins
  • Transcription Factors
  • WT1 Proteins
  • Histidine
  • Arginine