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A novel mutation of the KIT gene in a Chinese family with piebaldism
Wen Guang-dong; Zhou Cheng; Yu Cong; Du Juan; Xu Qian-xi; Liu Zheng-yi; Zhang Jian-zhong
关键词Piebaldism Gene Mutation Kit Gene
刊名CHINESE MEDICAL JOURNAL
2013-06-20
DOI10.3760/cma.j.issn.0366-6999.20130463
126期:12页:2325-2328
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Medicine, General & Internal
研究领域[WOS]General & Internal Medicine
关键词[WOS]FACTOR RECEPTOR PROTOONCOGENE ; STEM-CELL FACTOR ; PHENOTYPES ; KINASE ; SKIN ; SLUG
英文摘要

Background Human piebaldism is a rare autosomal dominant condition characterized by congenital white forelock and depigmented patches of skin, typically on the forehead, anterior trunk and extremities. Mutations in the KIT gene have been proposed to be responsible for the underlying changes in this disorder. The aim of this study was to identify gene mutation in a Chinese family with piebaldism.

Methods A Chinese family with piebaldism presenting with white forelock and large depigmented skin macules on the abdomen, arms and legs was collected. DNA was isolated from peripheral blood of the family members. The encoding exons with flanking intron regions of the KIT gene were analyzed by polymerase chain reactions (PCR) and direct DNA sequencing. Besides, DNA extracted from 100 ethnically matched population individuals was as controls.

Results A heterozygous missense mutation c.2590T>C was identified in the patients of the family. This mutation converted a serine residue to proline (p.Ser864Pro). The mutation was not found in their unaffected family members or normal controls.

Conclusion A novel missense mutation c.2590 T>C was found and it might play a significant role in the piebaldism phenotype in the family.

语种英语
WOS记录号WOS:000321473800023
项目编号81201221 ; RDB2011-13
资助机构National Natural Science Foundation of China ; Peking University People&prime ; s Hospital Research and Development Funds
引用统计
被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/52279
专题北京大学第二临床医学院_皮科
作者单位Peking Univ, Peoples Hosp, Dept Dermatol, Beijing 100044, Peoples R China
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GB/T 7714
Wen Guang-dong,Zhou Cheng,Yu Cong,et al. A novel mutation of the KIT gene in a Chinese family with piebaldism[J]. CHINESE MEDICAL JOURNAL,2013,126(12):2325-2328.
APA Wen Guang-dong.,Zhou Cheng.,Yu Cong.,Du Juan.,Xu Qian-xi.,...&Zhang Jian-zhong.(2013).A novel mutation of the KIT gene in a Chinese family with piebaldism.CHINESE MEDICAL JOURNAL,126(12),2325-2328.
MLA Wen Guang-dong,et al."A novel mutation of the KIT gene in a Chinese family with piebaldism".CHINESE MEDICAL JOURNAL 126.12(2013):2325-2328.
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