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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2004-4-27
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pubmed:databankReference |
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
D
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0022-0345
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
83
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
368-70
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:15111626-Adolescent,
pubmed-meshheading:15111626-Aggressive Periodontitis,
pubmed-meshheading:15111626-Alleles,
pubmed-meshheading:15111626-Amino Acid Sequence,
pubmed-meshheading:15111626-Arginine,
pubmed-meshheading:15111626-Cathepsin C,
pubmed-meshheading:15111626-Child,
pubmed-meshheading:15111626-Codon, Terminator,
pubmed-meshheading:15111626-Conserved Sequence,
pubmed-meshheading:15111626-Cytosine,
pubmed-meshheading:15111626-Exons,
pubmed-meshheading:15111626-Female,
pubmed-meshheading:15111626-Gene Deletion,
pubmed-meshheading:15111626-Genetic Variation,
pubmed-meshheading:15111626-Guanine,
pubmed-meshheading:15111626-Humans,
pubmed-meshheading:15111626-Leucine,
pubmed-meshheading:15111626-Male,
pubmed-meshheading:15111626-Mutation,
pubmed-meshheading:15111626-Mutation, Missense,
pubmed-meshheading:15111626-Papillon-Lefevre Disease,
pubmed-meshheading:15111626-Serine,
pubmed-meshheading:15111626-Tryptophan
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pubmed:year |
2004
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pubmed:articleTitle |
Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome.
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pubmed:publicationType |
Letter,
Research Support, Non-U.S. Gov't
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