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A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.

ABSTRACT: 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 hair color and piebaldism. In this study, we have investigated a Chinese family with piebaldism and auburn hair color; the mutation screening of KIT and MC1R genes identified that only a splicing mutation (c. 2484+1G>A) of KIT gene cosegregated with the auburn hair color and piebaldism. The data of this study and others suggests that the KIT mutation may causes of the auburn hair color in the piebaldism patients.

SUBMITTER: Yang YJ

PROVIDER: S-EPMC3755434 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.

Yang Yong-jia YJ Zhao Rui R He Xin-yu XY Li Li-ping LP Wang Ke-wei KW Zhao Liu L Tu Ming M Tang Jin-song JS Xie Zhi-guo ZG Zhu Yi-min YM

BioMed research international 20130813

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 hair color and piebaldism. In this study, we have investigated a Chinese family with p ...[more]

PMID: 24000325

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A novel missense KIT mutation causing piebaldism in one Chinese family associated with cafe-au-lait macules and intertriginous freckling.

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