A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn Hair Color in a Chinese Family
Joint Authors
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
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-08-12
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Yang, Yong-jia& Zhao, Rui& He, Xin-yu& Li, Li-ping& Wang, Ke-wei& Zhao, Liu…[et al.]. 2013. A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn Hair Color in a Chinese Family. BioMed Research International،Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-1004871
Modern Language Association (MLA)
Yang, Yong-jia…[et al.]. A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn Hair Color in a Chinese Family. BioMed Research International No. 2013 (2013), pp.1-6.
https://search.emarefa.net/detail/BIM-1004871
American Medical Association (AMA)
Yang, Yong-jia& Zhao, Rui& He, Xin-yu& Li, Li-ping& Wang, Ke-wei& Zhao, Liu…[et al.]. A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn Hair Color in a Chinese Family. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-1004871
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1004871