Software and database for the analysis of mutations in the human WT1 gene

Nucleic Acids Res. 1998 Jan 1;26(1):271-4. doi: 10.1093/nar/26.1.271.

Abstract

The WT1 gene, located at 11p13, encodes a zinc finger transcription factor involved in renal and gonadal development and in Wilms' tumor. Constitutional mutations of this gene have been described in most patients with Denys Drash syndrome (mesangial sclerosis associated with male pseudohermaphrodism and/or Wilms' tumor), but also in patients with genitourinary abnormalities and Wilms' tumor (WT) or presenting with only unilateral or bilateral WT. Moreover, approximately 10% of Wilms' tumors carry WT1 mutations at the somatic level. To facilitate the genotype-phenotype correlation analyses, we have created a software package along with a computerized database of germline (70 entries) and somatic (28 entries) mutations reported in the literature.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computer Communication Networks
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Databases, Factual*
  • Female
  • Genes, Wilms Tumor*
  • Humans
  • Male
  • Mutation*
  • Software*
  • Transcription Factors / genetics*
  • WT1 Proteins
  • Zinc Fingers / genetics*

Substances

  • DNA-Binding Proteins
  • Transcription Factors
  • WT1 Proteins