Distinct molecular origins for Denys-Drash and Frasier syndromes

Hum Genet. 1993 Apr;91(3):285-6. doi: 10.1007/BF00218274.

Abstract

The direct involvement of the Wilm's tumor suppressor gene (WT1) in Denys-Drash syndrome through mutations within exons 8 or 9 has recently been established. The absence of such alterations in three patients with Frasier syndrome provides a molecular basis for distinguishing these two syndromes that are associated with streak gonads, pseudohermaphroditism and renal failure.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA, Single-Stranded
  • Female
  • Genes, Wilms Tumor*
  • Gonadal Dysgenesis / genetics*
  • Humans
  • Kidney Failure, Chronic / genetics*
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Syndrome
  • Wilms Tumor / genetics*

Substances

  • DNA, Single-Stranded