BACKGROUND: Human piebaldism is a rare autosomal dominant condition 
characterized by congenital white forelock and depigmented patches of skin, 
typically on the forehead, anterior trunk and extremities. Mutations in the KIT 
gene have been proposed to be responsible for the underlying changes in this 
disorder. The aim of this study was to identify gene mutation in a Chinese 
family with piebaldism.
METHODS: A Chinese family with piebaldism presenting with white forelock and 
large depigmented skin macules on the abdomen, arms and legs was collected. DNA 
was isolated from peripheral blood of the family members. The encoding exons 
with flanking intron regions of the KIT gene were analyzed by polymerase chain 
reactions (PCR) and direct DNA sequencing. Besides, DNA extracted from 100 
ethnically matched population individuals was as controls.
RESULTS: A heterozygous missense mutation c.2590T > C was identified in the 
patients of the family. This mutation converted a serine residue to proline 
(p.Ser864Pro). The mutation was not found in their unaffected family members or 
normal controls.
CONCLUSION: A novel missense mutation c.2590 T > C was found and it might play a 
significant role in the piebaldism phenotype in the family.