Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

摘要: Abstract Piebaldism is a rare autosomal dominant disorder of pigmentation, characterized by congenital patches white skin and hair from which melanocytes are absent. We have previously shown that piebaldism can result missense frameshift mutations the KIT proto-oncogene, encodes cellular receptor tyrosine kinase for mast/stem cell growth factor. Here, we report two novel associated with human piebaldism. A proximal mild piebald phenotype, splice-junction mutation highly variable phenotype. discuss apparent relationship between predicted impact specific on total KIT-dependent signal transduction severity resultant phenotypes.