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