title: [A novel KIT gene mutation results in piebaldism].
abstract: OBJECTIVE
  To detect gene mutation in proband and his mother from a family with piebaldism.
  
  
  METHODS
  Diagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical manifestation. PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism.
  
  
  RESULTS
  G1833A transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in V604I substitution in KIT gene. No mutation was found in 100 normal individuals and other family members.
  
  
  CONCLUSIONS
  The mutation of V604I is the cause of clinical phenotype of the family with piebaldism.
authors.affiliation: Department of Dermatology, Guangdong Provincial People's HospitalìGuangzhou, PR China.
authors.forename: Wei-ping
authors.initials: WP
authors.lastname: Deng
authors.forename: Chun
authors.initials: C
authors.lastname: Lu
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: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D016116:Piebaldism / Q000235:genetics*; D016133:Polymerase Chain Reaction; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit