Human piebaldism is a rare autosomal dominant disorder that comprises congenital 
patchy depigmentation of the scalp, forehead, trunk and limbs. It is caused by 
mutations in the cell-surface receptor tyrosine kinase gene (KIT, also c-kit). 
We screened three families and three isolated cases of piebaldism from different 
countries for mutations in the KIT gene using automated sequencing methods. We 
report six novel KIT point mutations: three missense (C788R, W835R, P869S) at 
highly conserved amino acid sites; one nonsense (Q347X) that results in 
termination of translation of the KIT gene in exon 6; and two splice site 
nucleotide substitutions (IVS13+2T>G, IVS17-1G>A) that are predicted to impair 
normal splicing. These mutations were not detected in over 100 normal 
individuals and are likely to be the cause of piebaldism in our subjects.