| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Papillon-Lefevre syndrome (PLS) | palmoplantar keratoderma, psoriasiform,gingivitis | Autosomal Recessive | 11q14.2 | Deletion | CTSC | 21delG | Leu7Phefs*57 | Frame shift mutation & PTC | Kurban et al., 2010/2010 |
| Papillon-Lefevre syndrome (PLS) | palmoplantar keratoderma,psoriasiform,gingivitis | Autosomal Recessive | 11q14.2 | Missense | CTSC | 815G>C | Arg272Pro | Amino Acid Substitution | Kurban et al., 2009/2009 |
| Papillon-Lefevre syndrome (PLS) | palmoplantar keratoderma,psoriasiform,gingivitis | Autosomal Recessive | 11q14.2 | Missense | CTSC | 1213C>A | His405Asn | Amino Acid Substitution | de Haar et al., 2004/2004 |
