Article
A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.
BioMed research international - 1 Jan 2013
Yang Yong-jia, Zhao Rui, He Xin-yu, Li Li-ping, Wang Ke-wei, Zhao Liu, Tu Ming, Tang Jin-song, Xie Zhi-guo, Zhu Yi-min
Abstract excerpt
Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by KIT gene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneous MC1R (a gene which is associated with the hair color) variant (p.I120T) coordinating with KIT mutation may lead to auburn...
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