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.
Publication types
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Aggressive Periodontitis / enzymology*
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Aggressive Periodontitis / genetics
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Alleles
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Amino Acid Sequence / genetics
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Arginine / genetics
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Cathepsin C / genetics*
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Child
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Codon, Terminator / genetics
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Conserved Sequence / genetics
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Cytosine
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Exons / genetics
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Female
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Gene Deletion
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Genetic Variation / genetics
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Guanine
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Humans
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Leucine / genetics
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Male
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Mutation / genetics*
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Mutation, Missense / genetics
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Papillon-Lefevre Disease / enzymology*
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Papillon-Lefevre Disease / genetics
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Serine / genetics
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Tryptophan / genetics
Substances
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Codon, Terminator
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Serine
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Guanine
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Tryptophan
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Cytosine
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Arginine
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Cathepsin C
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Leucine