A novel mutation of the K/T 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 

机构地区：[1]Department of Dermatology, Peking University People's Hospital, Beijing 100044, China

出　　处：《Chinese Medical Journal》2013年第12期2325-2328,共4页中华医学杂志（英文版）

基　　金：This work was supported by grants from the National Natural Science Foundation of China （No. 81201221） and Peking University People＇s Hospital Research and Development Funds （No. RDB2011-13）.Acknowledgments： The authors are grateful to all patients and family members for their participation in this study.

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 controis.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.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 controis.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.

关 键 词：PIEBALDISM gene mutation KITgene 

分 类 号：Q754[生物学—分子生物学] Q78