title: A novel mutation of the cathepsin C gene in Papillon-Lefèvre syndrome.
abstract: BACKGROUND
  Papillon-Lefèvre syndrome (PLS) is a disorder that involves destruction of the periodontium and abnormal hyperkeratosis of the palms of the hands and soles of the feet. Mutations of the lysosomal protease cathepsin C gene (CTSC) have been associated with PLS. However, genotypic and phenotypic correlation has not been established. In the present study we investigated the CTSC gene in a Brazilian cohort affected by PLS.
  
  
  METHODS
  Eight consanguineous members of a kindred with PLS were studied. DNA was extracted and all exons of the gene amplified by the polymerase chain reaction (PCR) using specific primers. Mutations were identified by DNA sequencing of the coding region and introns of the CTSC gene.
  
  
  RESULTS
  Sequence analysis of CTSC from subjects affected by PLS identified a novel mutation (587T --> C) in exon 4, predicted to cause a Leu196Pro amino acid substitution. Three of 3 subjects were homozygous for cathepsin C mutations inherited from a common ancestor. One patient was heterozygous and showed plantar hyperkeratosis without periodontal disease. Two other family members were also heterozygous but did not present palmoplantar hyperkeratosis and/or periodontal disease.
  
  
  CONCLUSIONS
  This study describes a novel mutation of the cathepsin C gene in a Brazilian kindred with Papillon-Lefèvre syndrome.
authors.affiliation: Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors.forename: Vanessa F
authors.initials: VF
authors.lastname: Cury
authors.forename: José E
authors.initials: JE
authors.lastname: Costa
authors.forename: Ricardo S
authors.initials: RS
authors.lastname: Gomez
authors.forename: Wolfanga L
authors.initials: WL
authors.lastname: Boson
authors.forename: Cyro G
authors.initials: CG
authors.lastname: Loures
authors.forename: Marcot Luiz
authors.initials: ML
authors.lastname: De
mesh_terms: D000293:Adolescent; D010520:Aggressive Periodontitis / Q000209:etiology / Q000235:genetics*; D019943:Amino Acid Substitution; D020789:Cathepsin C / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010214:Papillon-Lefevre Disease / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011392:Proline / Q000235:genetics
chemical_list: D011392:Proline; D020789:Cathepsin C; D007930:Leucine