Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome.
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.
Noack
B
B
Görgens
H
H
Hoffmann
Th
T
Fanghänel
J
J
Kocher
Th
T
Eickholz
P
P
Schackert
H K
HK
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
D018388:Codon, Terminator; D012694:Serine; D006147:Guanine; D014364:Tryptophan; D003596:Cytosine; D001120:Arginine; D020789:Cathepsin C; D007930:Leucine