Abstract: We report a domestic family of piebaldism and analyzes the pathogenic gene mutations. The proband was a 7-year-old boy who presented with irregular white patches on the forehead and both lower legs shortly after birth. The area of the white patches did not expand with age, and small hyperpigmented macule gradually appeared in the center of the white patches. The proband's mother exhibited similar clinical manife-stations. The peripheral blood DNA from the proband, his mother, and a normal control were extracted, and then whole-exome high-throughput sequencing and Sanger sequencing validation were performed. A heterozygous mutation c.2776_2777insCACG (p.P896fs) in exon 19 of the KIT gene was identified in both the proband and his mother. This mutation was not found in the normal control and was reported for the first time.

Key words: piebaldism, KIT gene, mutation