title: Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome.
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.
authors.forename: B
authors.initials: B
authors.lastname: Noack
authors.forename: H
authors.initials: H
authors.lastname: Görgens
authors.forename: Th
authors.initials: T
authors.lastname: Hoffmann
authors.forename: J
authors.initials: J
authors.lastname: Fanghänel
authors.forename: Th
authors.initials: T
authors.lastname: Kocher
authors.forename: P
authors.initials: P
authors.lastname: Eickholz
authors.forename: H K
authors.initials: HK
authors.lastname: Schackert
mesh_terms: D000293:Adolescent; D010520:Aggressive Periodontitis / Q000201:enzymology* / Q000235:genetics; D000483:Alleles; D000595:Amino Acid Sequence / Q000235:genetics; D001120:Arginine / Q000235:genetics; D020789:Cathepsin C / Q000235:genetics*; D002648:Child; D018388:Codon, Terminator / Q000235:genetics; D017124:Conserved Sequence / Q000235:genetics; D003596:Cytosine; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D014644:Genetic Variation / Q000235:genetics; D006147:Guanine; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010214:Papillon-Lefevre Disease / Q000201:enzymology* / Q000235:genetics; D012694:Serine / Q000235:genetics; D014364:Tryptophan / Q000235:genetics
chemical_list: D018388:Codon, Terminator; D012694:Serine; D006147:Guanine; D014364:Tryptophan; D003596:Cytosine; D001120:Arginine; D020789:Cathepsin C; D007930:Leucine