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Functional Cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes
Barbara Noack1, Heike Görgens, Beate Schacher
1Department of Conservative Dentistry, University Hospital Carl Gustav Carus, TU Dresden, Germany. Barbara.Noack@uniklinikum-dresden.de
Journal of Clinical Periodontology
|February 26, 2008
Summary
Papillon-Lefèvre syndrome (PLS) is linked to Cathepsin C (CTSC) gene mutations. Identifying these mutations aids in diagnosing severe aggressive periodontitis in children, even with varied symptoms.
Area of Science:
- Genetics
- Dermatology
- Dentistry
Background:
- Papillon-Lefèvre syndrome (PLS) is an autosomal-recessive disorder.
- PLS presents with severe aggressive periodontitis and palmoplantar hyperkeratosis.
- Mutations in the Cathepsin C (CTSC) gene are the known cause of PLS.
Purpose of the Study:
- To identify CTSC gene mutations in patients with typical and atypical PLS phenotypes.
- To investigate CTSC mutations in isolated pre-pubertal aggressive periodontitis (PAP).
Main Methods:
- Direct sequencing of the CTSC gene's coding and regulatory regions in 13 families.
- Functional analysis of novel mutations using enzyme activity measurements.
Main Results:
- Pathogenic CTSC mutations were identified in 11 of 13 families.
- Twelve distinct CTSC mutations were found, including four novel ones.
- Phenotypic variability was observed, but not directly linked to specific genotypes.
Conclusions:
- CTSC mutation analysis is crucial for diagnosing severe aggressive periodontitis in children.
- Phenotypic heterogeneity in PLS may result from additional genetic or environmental factors.
- Genetic testing for CTSC mutations should be considered in the differential diagnosis of severe aggressive periodontitis.
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