Human piebaldism: relationship between phenotype and site of kit gene mutation

Br J Dermatol. 1995 Jun;132(6):929-35. doi: 10.1111/j.1365-2133.1995.tb16951.x.

Abstract

Human piebaldism is a rare autosomal dominant disorder characterized by congenital depigmented patches of skin and hair. Piebaldism results from mutations of the kit proto-oncogene, which encodes a cell-surface receptor, tyrosine kinase, whose ligand is the stem/mast cell growth factor. We report four unrelated patients with piebaldism and consider the variations in phenotype in relation to the site of the kit gene mutation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant*
  • Humans
  • Male
  • Mast Cells
  • Mutation
  • Pedigree
  • Phenotype
  • Piebaldism / genetics*
  • Piebaldism / pathology
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-kit
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptors, Colony-Stimulating Factor / genetics*
  • Skin / pathology

Substances

  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins
  • Receptors, Colony-Stimulating Factor
  • Proto-Oncogene Proteins c-kit
  • Receptor Protein-Tyrosine Kinases