title: 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.
authors.affiliation: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha 410008, China.
authors.forename: Yong-jia
authors.initials: YJ
authors.lastname: Yang
authors.forename: Rui
authors.initials: R
authors.lastname: Zhao
authors.forename: Xin-yu
authors.initials: XY
authors.lastname: He
authors.forename: Li-ping
authors.initials: LP
authors.lastname: Li
authors.forename: Ke-wei
authors.initials: KW
authors.lastname: Wang
authors.forename: Liu
authors.initials: L
authors.lastname: Zhao
authors.forename: Ming
authors.initials: M
authors.lastname: Tu
authors.forename: Jin-song
authors.initials: JS
authors.lastname: Tang
authors.forename: Zhi-guo
authors.initials: ZG
authors.lastname: Xie
authors.forename: Yi-min
authors.initials: YM
authors.lastname: Zhu
mesh_terms: D000328:Adult; D017398:Alternative Splicing / Q000235:genetics*; D002648:Child; D002681:China; D005260:Female; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016116:Piebaldism / Q000175:diagnosis* / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit