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		Mutation Database - Papillon Lefevre Syndrome Papillon Lefevre Syndrome | Amelogenesis Imperfecta | Genomic Structure of CTSC Diagram   Mutations in Cathespin C Last Updated: April 16, 2002 Mutations in the cathepsin C (CTSC) gene have been described in patients with Papillon Lefevre syndrome (OMIM 245000), Haim Munk syndrome (OMIM 245010), and prepubertal periodontitis. Mutations are designated based upon cDNA (Accession Number NM_001814) numbering considering the initiator Met codon as nucleotide +1, according to the published nomenclature guidelines (Antonarakis et al. Hum Mutat 1998; 11:1-3). Summary Table Mutation Effect Location Reference(s) c.72C-->A C24X Exon 1 Lefevre et al., J Invest Dermatol 2001;117:1657-61 c.96T-->G Y32X Exon 1 Lefevre et al., J Invest Dermatol 2001;117:1657-61 c.116G-->C W39S Exon 1 Nakano et al., J Invest Dermatol 2001;116:339-43 c.199-222del Deletion of aa 67-74 Exon 2 Hart et al., J Med Genet 2000;37:927-32 c.380A-->C H127P Exon 3 Lefevre et al., J Invest Dermatol 2001;117:1657-61 c.445-446insATGT Frameshift, termination at aa 157 Exon 3 Hart et al., J Med Genet 2000;37:927-32 IVS3-1G-->A Altered splicing Exon 3 Toomes et al., Nat Genet 1999;23:421-4 c.555G>A W185X Exon 4 Hart et al. (submitted) c.587T-->C L196P Exon 4 Cury et al., J Periodontol 2002;73:307-12 c.622-623insC Frameshift, termination at aa 223 Exon 4 Hart et al., J Med Genet 2000;37:927-32 c.628C-->T R210X Exon 4 Toomes et al., Nat Genet 1999;23:421-4 Lefevre et al., J Invest Dermatol 2001;117:1657-61 c.704G-->A W235X Exon 5 Hart et al., J Med Genet 2000;37:927-32 c.706G-->T D236Y Exon 5 Allende et al., Hum Mutat 2001;17:152-153 c.711del14 Frameshift, termination at aa 248 Exon 5 Lefevre et al., J Invest Dermatol 2001;117:1657-61 c.745G-->T V249F Exon 5 Toomes et al., Nat Genet 1999;23:421-4 c.748C-->T R250X Exon 5 Hart et al., J Med Genet 2000;37:927-32 c.755A-->T Q252L Exon 5 Toomes et al., Nat Genet 1999;23:421-4 c.815G-->C R272P Exon 6 Toomes et al., Nat Genet 1999;23:421-4 Lefevre et al., J Invest Dermatol 2001;117:1657-61 c.856C-->T Q286X Exon 6 Hart et al., J Med Genet 2000;37:88-94 Allende et al., Hum Mutat 2001;17:152-153 c.857A-->G Q286R Exon 6 Hart et al., J Med Genet 2000;37:88-94 c.872G-->A C291Y Exon 6 Allende et al., Hum Mutat 2001;17:152-153 c.898G-->A G300S Exon 7 Hart et al., J Med Genet 2000;37:927-32 c.899G-->A G300D Exon 7 Zhang et al., J Med Genet 2001:38:96-101 c.902G-->T G301V Exon 7 Hart et al., J Med Genet 2000;37:927-32 c.901G-->A G301S Exon 7 Toomes et al., Nat Genet 1999;23:421-4 Hart et al., J Med Genet 2000;37:927-32 Nakano et al., J Invest Dermatol 2001;116:339-43 c.910T-->A Y304N Exon 7 Hart et al., J Med Genet 2000;37:927-32 c.956A-->G E319G Exon 7 Hart et al., J Med Genet 2000;37:927-32 c.984del7bp Frameshift, termination at aa 329 Exon 7 Lefevre et al., J Invest Dermatol 2001;117:1657-61 c.1015C-->T R339C Exon 7 Toomes et al., Nat Genet 1999;23:421-4 Hart et al., J Med Genet 2000;37:95-101 Hart et al., J Med Genet 2000;37:927-32 Lefevre et al., J Invest Dermatol 2001;117:1657-61 c.1019A-->G Y340C Exon 7 Hart et al., J Med Genet 2000;37:95-101 c.1028-1029delCT Introduction of premature termination codon Exon 7 Hart et al., J Med Genet 1999;36:881-7 c.1040A-->G Y347C Exon 7 Toomes et al., Nat Genet 1999;23:421-4 c.1047delA Frameshift, termination at aa 349 Exon 7 Hart et al., J Med Genet 1999;36:881-7 Hart et al., J Med Genet 2000;37:927-32 c.1056delT Frameshift, termination at aa 351 Exon 7 Lefevre et al., J Invest Dermatol 2001;117:1657-61 c.1141delC Frameshift, termination at aa 393 Exon 7 Lefevre et al., J Invest Dermatol 2001;117:1657-61 c.1286G-->A W429X Exon 7 Hart et al., J Med Genet 1999;36:881-7 Hart et al., J Med Genet 2000;37:927-32 c.1287G-->C W429C Exon 7 Lefevre et al., J Invest Dermatol 2001;117:1657-61 c.1360A-->G E447G Exon 7 Hart et al., J Med Genet 2000;37:927-32 Type of Mutation Percent of Mutation Missense 56.4% Nonsense 17.9% Deletions 17.9% Insertions 5.1% Splicing 2.6%