Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome
Publikation: Beitrag in Fachzeitschrift › Forschungsartikel › Beigetragen › Begutachtung
Beitragende
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.
Details
Originalsprache | Englisch |
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Seiten (von - bis) | 368-370 |
Seitenumfang | 3 |
Fachzeitschrift | Journal of Dental Research |
Jahrgang | 83 |
Ausgabenummer | 5 |
Publikationsstatus | Veröffentlicht - Mai 2004 |
Peer-Review-Status | Ja |
Externe IDs
Scopus | 2442701902 |
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PubMed | 15111626 |
ORCID | /0000-0002-0423-7107/work/147142719 |
Schlagworte
Schlagwörter
- Adolescent, Aggressive Periodontitis/enzymology, 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, Serine/genetics, Tryptophan/genetics