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

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;

^* 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

This article has been cited by other articles:

				Y. Yang, X. Bai, H. Liu, L. Li, C. Cao, and L. Ge Novel Mutations of Cathepsin C Gene in Two Chinese Patients with Papillon-Lefevre Syndrome J. Dent. Res., August 1, 2007; 86(8): 735 - 738. [Abstract] [Full Text] [PDF]