Article
A novel KIT missense mutation in one Chinese family with piebaldism.
Archives of dermatological research - 1 Jun 2009
Yin Xian-Yong, Ren Yun-Qing, Yang Sen, Xu Sheng-Xin, Zhou Fu-Sheng, Du Wen-Hui, Lin Da, Wang Pei-Guang, Zhang Shu-Mei, Zhang Xue-Jun
Abstract excerpt
Piebaldism is an autosomal dominant disorder characterized by congenital leukoderma, mostly affecting forehead, abdomen and knee. Previous studies have revealed that piebaldism is caused by mutations of the KIT gene, which encodes the cell surface transmembrane tyrosine kinase receptor for KIT ligand. We reported here a Chinese Han family with piebaldism, and performed mutation detection of KIT gene by direct...
Topics
- Catalytic Domain
- Child
- China
- DNA Mutational Analysis
- Family
- Genetic Predisposition to Disease
- Genotype
- Humans
- Male
- Mutation, Missense
- Pedigree