title: [Identification of a novel KIT mutation in a Chinese family affected with piebaldism].
abstract: OBJECTIVE
  To identify the pathogenic mutation underlying piebaldism in a Chinese family.
  
  
  METHODS
  A three-generation family showing an autosomal dominant transmission of piebaldism was recruited. Potential mutations of the KIT and SNAI2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing.
  
  
  RESULTS
  A heterozygous missense mutation, c.2585T>C, was identified in exon 18 of the KIT gene. The mutation, together with a c.2586G>C polymorphism, has led to substitution of Leucine by Proline at amino acid residue 862 (p.Leu862Pro) of the mast/stem cell growth factor receptor KIT. The same mutation was detected in all affected family members but not in dbSNP142, the 1000 Genomes draft database, or the Human Gene Mutation Database. No mutation of the SNAI2 gene was found.
  
  
  CONCLUSIONS
  The c.2585T>C (p.Leu862Pro) mutation in the KIT gene probably underlies the piebaldism phenotype in this family.
authors: Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100005, China; Institute for Science and Technology Research of Chongqing Population and Family Planning, Chongqing 400020, China; Department of Dermatology, Air Force General Hospital, Beijing 100142, China, Email: Luo2005wei@sina.com.
authors: Rongrong
authors: R
authors: Wang
authors: Shi
authors: S
authors: Shu
authors: Yi
authors: Y
authors: Zhang
authors: Wei
authors: W
authors: Luo
authors: Xue
authors: X
authors: Zhang
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D016116:Piebaldism / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: D019009:Proto-Oncogene Proteins c-kit