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;
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Figure. CTSC gene mutation in the PAP patient. (A) DNA sequence of exon 4 showing the wild-type and the homozygous deletion of 7 basepairs. The parents and the patient’s sister carry the heterozygous mutation. (B) Changes produced at the nucleotide and amino acid levels. The affected nucleotides and amino acids are highlighted in red.
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