Causative genes of piebaldism

Piebaldism is a rare autosomal dominant disease induced by melanocytic dysplasia, and is typically characterized by congenital triangular or rhombic white patches and forelock on the mid-forehead. Piebaldism has genetic heterogeneity, and most cases of this disease are caused by kit gene mutations. Genetic analyses reveal that mutational sites of the kit gene are closely related to clinical phenotypes of piebaldism. However, a few reports have indicated that there may be other factors causing the inconsistency between piebaldism genotypes and phenotypes, and the autosomal dominant inheritance pattern of piebaldism is also queried. The kit gene mainly encodes a type Ⅲ tyrosine kinase receptor. Mutations in the kit gene may lead to a decrease in the function or inactivation of the tyrosine kinase receptor, impairment of signal transduction, abnormalities in melanoblast proliferation and migration during embryonic development, which finally cause the occurrence of piebaldism. Key words: Genes; Melanocytes; Heredity; Piebaldism; Genes, kit; Virulence gene