【Objective】To investigate the mutations of KIT gene and SLUG（SNAI2）gene in one patients with piebaldism in Chi? na.【Methods】All coding exons and exon-intron boundaries of KIT gene and SLUG gene were amplified by PCR. The PCR products were sequenced. The DNA samples from 50 normal subjects were also sequenced for control.【Results】The novel mutation，c.860T>A （p.V287E），was detected in patient. This mutation was absent in his parents and the controls，indicating a de novo mutation. The de? tection result of all coding exons and exon-intron boundaries of SLUG gene was normal.This p.V287E mutation was located in the ex? tracellular ligand-bindingdomain（ectodomain）of KIT，which may generate clash with E249 and disrupt the conformation of βD and βD/βE of D3 that required for SCF（stem cell factor）binding.【Conclusion】We have identified a novel mutation of KIT gene，c.860T> A（p.V287E），which is probably associated with serious phenotypes of piebaldism.