Original Article
Analysis of KIT mutations in five patients from two Han Chinese pedigrees affected with Piebaldism
Yongxian Lai, Zijun Zhao, Qian Zhou, Lude Zhu, Linglin Zhang, Guolong Zhang, Yicheng Tang, Xiuli Wang
Published 2018-06-10
Cite as Chin J Med Genet, 2018, 35(3): 366-370. DOI: 10.3760/cma.j.issn.1003-9406.2018.03.013
Abstract
ObjectiveTo screen for KIT gene mutations in two Han Chinese pedigrees affected with Piebaldism.
MethodsClinical data of the pedigrees was collected. Genomic DNA was extracted from blood samples collected from the pedigrees and 120 unrelated healthy controls. All coding exons of the KIT gene were subjected to PCR amplification and direct sequencing.
ResultsTwo missense mutations, c. 1861G>A(p.Ala621Thr) and c. 1872G>A(p.Met624Ile), were identified respectively in the two pedigrees. Neither mutation was found among healthy members from the respective pedigree and the 120 unrelated healthy controls. c. 1872G>A is a novel mutation.
ConclusionMutations of the KIT gene may affect the structure and function of the transmembrane receptor KIT, which lead to the disease.
Key words:
Piebaldism; KIT gene; Mutation
Contributor Information
Yongxian Lai
Department of Surgery, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, China
Zijun Zhao
Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, China
Qian Zhou
Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, China
Lude Zhu
Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, China
Linglin Zhang
Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, China
Guolong Zhang
Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, China
Yicheng Tang
Department of Surgery, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, China
Xiuli Wang
Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, China
