An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

Nature. 1992 Feb 13;355(6361):637-8. doi: 10.1038/355637a0.


Here we report the identification and characterization of a gene defect causing Waardenburg's syndrome with hearing loss in a large Brazilian family. This demonstrates a mutation causing Waardenburg's syndrome as well as a mutation causing a form of congenital deafness. The mutation was found in the HuP2 gene, a member of the paired domain family of proteins that bind DNA and regulate gene expression. The mutation occurred in 100% of the cases with the disease in this family and was absent in a random sample of 50 unrelated control subjects. Identification of the Waardenburg's syndrome gene and future characterization of its gene product is likely to increase our understanding of the pathogenesis of this disorder and may allow prevention of deafness of this type.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 2
  • DNA-Binding Proteins / genetics
  • Exons*
  • Genes, Homeobox / genetics*
  • Humans
  • Molecular Conformation
  • Molecular Sequence Data
  • PAX3 Transcription Factor
  • Paired Box Transcription Factors
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Restriction Mapping
  • Transcription Factors*
  • Waardenburg Syndrome / genetics*


  • DNA-Binding Proteins
  • PAX3 Transcription Factor
  • PAX3 protein, human
  • Paired Box Transcription Factors
  • Transcription Factors
  • Pax3 protein, mouse