Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome

J Dent Res. 2004 May;83(5):368-70. doi: 10.1177/154405910408300503.

Abstract

Aggressive periodontitis (AP) in pre-pubertal children is often associated with genetic disorders like Papillon-Lefèvre syndrome (PLS). PLS is caused by mutations in the cathepsin C (CTSC) gene. We report a novel CTSC mutation (c.566-572del) in an otherwise healthy AP child and two novel compound heterozygous mutations (c.947T>G, c.1268G>C) in a PLS patient. We conclude that at least a subset of pre-pubertal AP is due to CTSC mutations and therefore may be an allelic variant of PLS.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Aggressive Periodontitis / enzymology*
  • Aggressive Periodontitis / genetics
  • Alleles
  • Amino Acid Sequence / genetics
  • Arginine / genetics
  • Cathepsin C / genetics*
  • Child
  • Codon, Terminator / genetics
  • Conserved Sequence / genetics
  • Cytosine
  • Exons / genetics
  • Female
  • Gene Deletion
  • Genetic Variation / genetics
  • Guanine
  • Humans
  • Leucine / genetics
  • Male
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Papillon-Lefevre Disease / enzymology*
  • Papillon-Lefevre Disease / genetics
  • Serine / genetics
  • Tryptophan / genetics

Substances

  • Codon, Terminator
  • Serine
  • Guanine
  • Tryptophan
  • Cytosine
  • Arginine
  • Cathepsin C
  • Leucine

Associated data

  • OMIM/245000
  • OMIM/602365