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

@article{Noack2004NovelMI,
  title={Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lef{\`e}vre syndrome.},
  author={Barbara Noack and Heike Goergens and Th Hoffmann and Jutta Fanghaenel and Th Kocher and Peter Eickholz and Hans Konrad Schackert},
  journal={Journal of dental research},
  year={2004},
  volume={83 5},
  pages={368-70}
}
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. 

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