A novel KIT missense mutation in one Chinese family with piebaldism.
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 sequencing. A novel missense mutation C58G was identified in the patients, but not in the healthy individuals from the family and 100 unrelated controls. This study contributes to the database on KIT in piebaldism and enriches the knowledge about the genotype/phenotype correlation.
Yin
Xian-Yong
XY
Institute of Dermatology, Anhui Medical University, 81 Meishan Road, 230032 Hefei, Anhui, People's Republic of China.
Ren
Yun-Qing
YQ
Yang
Sen
S
Xu
Sheng-Xin
SX
Zhou
Fu-Sheng
FS
Du
Wen-Hui
WH
Lin
Da
D
Wang
Pei-Guang
PG
Zhang
Shu-Mei
SM
Zhang
Xue-Jun
XJ
D020134:Catalytic Domain / Q000235:genetics; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005190:Family; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D016116:Piebaldism / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D011110:Polymorphism, Genetic; D011505:Protein-Tyrosine Kinases / Q000235:genetics / Q000378:metabolism*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics* / Q000378:metabolism
D011505:Protein-Tyrosine Kinases; D019009:Proto-Oncogene Proteins c-kit