A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn Hair Color in a Chinese Family

Figure 2

The genetic finding of the Chinese family with piebaldism and auburn hair color.

(a) The pedigree, the MC1R polymorphism, and KIT mutation identified in this study

(b) The identified splicing mutation c. 2484+1G>A of KIT gene

(c) The effect of c. 2484+1G>A of KIT gene in mRNA lever. The PCR amplification using the primers flanked exon 17 of KIT illustrated two bands in the proband (III:2) and one band in control (II:4)

(d) The illustration of the deletion of exon 17 when these two bands were dissected and sequenced