title: [Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma].
abstract: OBJECTIVE
  To analyze the mutation of the keratin 9 gene (KRT9) in a pedigree with epidermolytic plamoplantar keratoderma (EPPK).
  
  
  METHODS
  Blood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation screening was carried out by polymerase chain reaction (PCR) and direct DNA sequencing.
  
  
  RESULTS
  A heterozygous nucleotide C to T transition at position 484 in exon 1 of the KRT9 gene was detected in the 3 affected in this family, but was not found in normal individuals in the family and 100 unrelated individuals.
  
  
  CONCLUSIONS
  A missense mutation (484 C to T) in the KRT9 gene has been detected in this EPPK family, which is probably one of the molecular bases of the pathogenesis of the disease.
authors.affiliation: Department of Dermatology, Wuxi Second Affiliated Hospital of Nanjing Medical University, Wuxi, Jiangsu, 214002 People's Republic of China.
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Guo-long
authors.initials: GL
authors.lastname: Zhang
authors.forename: Jian-xin
authors.initials: JX
authors.lastname: Zhai
authors.forename: Ling
authors.initials: L
authors.lastname: Wei
authors.forename: Xiao-hong
authors.initials: XH
authors.lastname: Zhu
authors.forename: Xun-yi
authors.initials: XY
authors.lastname: Dai
authors.forename: Li-jia
authors.initials: LJ
authors.lastname: Yang
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D053534:Keratin-9 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D053534:Keratin-9