title: New KIT mutations in patients with piebaldism.
abstract: BACKGROUND
  Piebaldism is an autosomal dominantly inherited disorder characterized by congenital leukoderma, typically on the forehead, abdomen, and knees. The leukoderma is usually stable throughout life. KIT mutations have been demonstrated in about 75% of patients with piebaldism.
  
  
  OBJECTIVE
  To identify KIT mutations of the family with piebaldism and examine genotype-phenotype correlations in this disorder.
  
  
  METHODS
  PCR-direct-sequencing technique using genomic DNA from peripheral leukocytes.
  
  
  RESULTS
  We have studied 10 individuals within six piebaldism families and able to identify six novel mutations in the KIT gene in patients with piebaldism. These include four frameshift mutations: 142delG, 1768-1769delAG, 2139delC, 2246-2249delAAAG, and two missense mutations: M541L, Y870C.
  
  
  CONCLUSIONS
  These six new mutations are associated with phenotypes that are well in accordance with our knowledge of genotype-phenotype correlations in KIT.
authors.affiliation: Department of Dermatology, Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi Abeno-ku, Osaka 545-8585, Japan. m5121277@msic.med.osaka-cu.ac.jp
authors.forename: Tomoko
authors.initials: T
authors.lastname: Murakami
authors.forename: Kazuyoshi
authors.initials: K
authors.lastname: Fukai
authors.forename: Naoki
authors.initials: N
authors.lastname: Oiso
authors.forename: Naoko
authors.initials: N
authors.lastname: Hosomi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kato
authors.forename: Cheryl
authors.initials: C
authors.lastname: Garganta
authors.forename: Angela
authors.initials: A
authors.lastname: Barnicoat
authors.forename: Francis
authors.initials: F
authors.lastname: Poppelaars
authors.forename: Robert
authors.initials: R
authors.lastname: Aquaron
authors.forename: Amy S
authors.initials: AS
authors.lastname: Paller
authors.forename: Masamitsu
authors.initials: M
authors.lastname: Ishii
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D016116:Piebaldism / Q000235:genetics*; D016133:Polymerase Chain Reaction; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit