title: [A novel KIT gene mutation from a family with piebaldism in the southern part of China].
abstract: OBJECTIVE
  To detect the gene mutation of a family with piebaldism.
  
  
  METHODS
  Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.
  
  
  RESULTS
  G 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members.
  
  
  CONCLUSIONS
  The mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.
authors.affiliation: Department of Dermatology, Guangdong Provincial People's Hospital, Guangzhou, Guangdong, P. R. China.
authors.forename: Wei-ping
authors.initials: WP
authors.lastname: Deng
authors.forename: Yue-shen
authors.initials: YS
authors.lastname: Huang
authors.forename: Chun
authors.initials: C
authors.lastname: Lu
authors.forename: Wei
authors.initials: W
authors.lastname: Lan
authors.forename: Guo-xing
authors.initials: GX
authors.lastname: Zhu
authors.forename: Qun-di
authors.initials: QD
authors.lastname: Lin
authors.forename: Pei-ying
authors.initials: PY
authors.lastname: Feng
mesh_terms: D000328:Adult; D001483:Base Sequence; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D016116:Piebaldism / Q000235:genetics*; D016133:Polymerase Chain Reaction; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D019009:Proto-Oncogene Proteins c-kit