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BioMed Research International
Volume 2013 (2013), Article ID 689756, 6 pages
http://dx.doi.org/10.1155/2013/689756
Research Article

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

1The 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
2The Laboratory of Basic Medicine, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, The Paediatric Academy of University of South China, Changsha 410008, China
3The Department of Research, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, The Paediatric Academy of University of South China, Changsha 410008, China
4Institute of Mental Health, Second Xiangya Hospital, Central South University, Changsha 410008, China
5Institute of Endocrinology Mental Health, Second Xiangya Hospital, Central South University, Changsha 410008, China
6Department of Emergency, Hunan Children’s Hospital, The Paediatric Academy of University of South China, Changsha 410008, China

Received 30 April 2013; Revised 8 July 2013; Accepted 10 July 2013

Academic Editor: Davinder Parsad

Copyright © 2013 Yong-jia Yang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.