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Journal of Dental Research
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Clinical

Novel Mutations in the Cathepsin C Gene in Patients with Pre-pubertal Aggressive Periodontitis and Papillon-Lefèvre Syndrome

B. Noack1,*, H. Görgens2, Th. Hoffmann1, J. Fanghänel3, Th. Kocher3, P. Eickholz4 and H.K. Schackert2

1 Department of Conservative Dentistry and
2 Department of Surgical Research, Universitätsklinikum Carl Gustav Carus, Dresden University of Technology, Fetscherstrasse 74, 01307, Dresden, Germany;
3 Department of Periodontology, Ernst Moritz Arndt University, Greifswald, Germany; and
4 Section of Periodontology, Department of Conservative Dentistry, School of Dental Medicine, Ruprecht-Karls-University, Heidelberg, Germany;

Correspondence: * corresponding author, Barbara.Noack{at}mailbox.tu-dresden.de

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.

Key Words: aggressive periodontitis • Papillon-Lefèvre syndrome • cathepsin C mutation

Journal of Dental Research, Vol. 83, No. 5, 368-370 (2004)
DOI: 10.1177/154405910408300503
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