title: Novel mutations in DSG1 causing striate palmoplantar keratoderma.
abstract: BACKGROUND
  Striate palmoplantar keratoderma (SPPK) has been shown to be caused by mutations in at least three genes: DSG1, DSP and KRT1.
  
  
  METHODS
  Three families with nine affected members were assessed using a candidate gene-based screening approach.
  
  
  RESULTS
  In all three families, new heterozygous mutations were found in DSG1.
  
  
  CONCLUSIONS
  Direct sequencing of cDNA derived from affected skin in one patient failed to reveal a pathogenic mutation, suggesting that SPPK results from haploinsufficiency for DSG1.
authors.affiliation: Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Haifa, Israel.
authors.forename: D
authors.initials: D
authors.lastname: Hershkovitz
authors.forename: J
authors.initials: J
authors.lastname: Lugassy
authors.forename: M
authors.initials: M
authors.lastname: Indelman
authors.forename: R
authors.initials: R
authors.lastname: Bergman
authors.forename: E
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D049109:Cell Proliferation; D004252:DNA Mutational Analysis; D051183:Desmoglein 1 / Q000235:genetics*; D051180:Desmoplakins / Q000235:genetics*; D005190:Family / Q000208:ethnology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D053556:Keratin-1 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D051183:Desmoglein 1; D051180:Desmoplakins; D053556:Keratin-1