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学科主题: 临床医学
题名:
A novel mutation of the KIT gene in a Chinese family with piebaldism
作者: 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
发表日期: 2013-06-20
DOI: 10.3760/cma.j.issn.0366-6999.20130463
卷: 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
所属项目编号: 81201221 ; RDB2011-13
项目资助者: National Natural Science Foundation of China ; Peking University People&prime ; s Hospital Research and Development Funds
WOS记录号: WOS:000321473800023
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52279
Appears in Collections:北京大学第二临床医学院_皮科_期刊论文

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作者单位: Peking Univ, Peoples Hosp, Dept Dermatol, Beijing 100044, Peoples R China

Recommended Citation:
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.
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