Functional Cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes

Journal of Clinical Periodontology

Volumn 35, Issue 4, 2008, Pages 311-316

  Noack, Barbara ^a,b   Görgens, Heike ^b   Schacher, Beate ^c   Puklo, Magda ^d   Eickholz, Peter ^c   Hoffmann, Thomas ^a   Schackert, Hans Konrad ^b  

^a Department of Conservative Dentistry ^*

^b UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^c UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^d JAGIELLONIAN UNIVERSITY   (Poland)

Author keywords

Cathepsin C gene mutation; Papillon Lef vre syndrome; Pre pubertal aggressive periodontitis

Indexed keywords

DIPEPTIDYL PEPTIDASE I; LEUKOCYTE ELASTASE;

ADULT; ARTICLE; CHILD; ENZYMOLOGY; FRAMESHIFT MUTATION; GENETICS; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PAPILLON LEFEVRE SYNDROME; PERIODONTITIS; PHENOTYPE; STOP CODON;

ADULT; CHILD; CODON, NONSENSE; DIPEPTIDYL PEPTIDASE I; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HUMANS; LEUKOCYTE ELASTASE; MUTATION, MISSENSE; PAPILLON-LEFEVRE DISEASE; PERIODONTITIS, JUVENILE; PHENOTYPE;

EID: 40849111783     PISSN: 03036979     EISSN: 1600051X     Source Type: Journal    
DOI: 10.1111/j.1600-051X.2008.01201.x     Document Type: Article

References (41)

1. Adkison, A. M., Raptis, S. Z., Kelley, D. G. Pham, C. T. N. (2002) Dipeptidyl peptidase I activates neutrophil-derived serine proteases and regulates the development of acute experimental arthritis. Journal of Clinical Investigation 109, 363 371.
2. Allende, L. M., Garcia-Perez, M. A., Moreno, A., Corell, A., Carasol, M., Martinez-Canut, P. Arnaiz-Villena, A. (2001) Cathepsin C gene: first compound heterozygous patient with Papillon-Lefevre syndrome and a novel symptomless mutation. Human Mutation 17, 152 153.
3. Almuneef, M., Al Khenaizan, S., Al Ajaji, S. Al Anazi, A. (2003) Pyogenic liver abscess and Papillon-Lefevre syndrome: not a rare association. Pediatrics 111, e85 e88.
4. Brown, R. S., Hays, G. L., Flaitz, C. M., O'Neill, P. A., Abramovitch, K. White, R. R. (1993) A possible late onset variation of Papillon-Lefevre syndrome: report of 3 cases. Journal of Periodontology 64, 379 386.
5. Bullon, P., Pascual, A., Fernandez-Novoa, M. C., Borobio, M. V., Muniain, M. A. Camacho, F. (1993) Late onset Papillon-Lefevre syndrome? A chromosomic, neutrophil function and microbiological study. Journal of Clinical Periodontology 20, 662 667.
6. Cagli, N. A., Hakki, S. S., Dursun, R., Toy, H., Gokalp, A., Ryu, O. H., Hart, P. S. Hart, T. C. (2005) Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefevre syndrome. Journal of Periodontology 76, 2322 2329.
7. Cury, V. F., Costa, J. E., Gomez, R. S., Boson, W. L., Loures, C. G. De, M. L. (2002) A novel mutation of the cathepsin C gene in Papillon-Lefevre syndrome. Journal of Periodontology 73, 307 312.
8. Cury, V. F., Gomez, R. S., Costa, J. E., Friedman, E., Boson, W. De Marco, L. (2005) A homozygous cathepsin C mutation associated with Haim-Munk syndrome. British Journal of Dermatology 152, 353 356.
9. de Haar, S. F., Hiemstra, P. S., van Steenbergen, M. T., Everts, V. Beertsen, W. (2006) Role of polymorphonuclear leukocyte-derived serine proteinases in defense against Actinobacillus actinomycetemcomitans. Infection and Immunity 74, 5284 5291.
10. de Haar, S. F., Jansen, D. C., Schoenmaker, T., De Vree, H., Everts, V. Beertsen, W. (2004) Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs. Human Mutation 23, 524.
11. De Vree, H., Steenackers, K. De Boever, J. A. (2000) Periodontal treatment of rapid progressive periodontitis in 2 siblings with Papillon-Lefevre syndrome: 15-year follow-up. Journal of Clinical Periodontology 27, 354 360.
12. Eickholz, P., Kugel, B., Pohl, S., Naher, H. Staehle, H. J. (2001) Combined mechanical and antibiotic periodontal therapy in a case of Papillon-Lefevre syndrome. Journal of Periodontology 72, 542 549.
13. Fardal, O., Drangsholt, E. Olsen, I. (1998) Palmar plantar keratosis and unusual periodontal findings. Observations from a family of 4 members. Journal of Clinical Periodontology 25, 181 184.
14. Gorlin, R. J., Sedano, H. Anderson, V. E. (1964) The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. A clinical and genetic analysis of the Papillon-Lefèvre syndrome. The Journal of Pediatrics 65, 895 908.
15. Haneke, E. (1979) The Papillon-Lefevre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. Human Genetics 51, 1 35.
16. Haneke, E., Hornstein, O. P. Lex, C. (1975) Increased susceptibility to infections in the Papillon-Lefevre syndrome. Dermatologica 150, 283 286.
17. Hart, P. S., Zhang, Y., Firatli, E., Uygur, C., Lotfazar, M., Michalec, M. D., Marks, J. J., Lu, X., Coates, B. J., Seow, W. K., Marshall, R., Williams, D., Reed, J. B., Wright, J. T. Hart, T. C. (2000a) Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients. Journal of Medical Genetics 37, 927 932.
18. Hart, T. C., Hart, P. S., Bowden, D. W., Michalec, M. D., Callison, S. A., Walker, S. J., Zhang, Y. Firatli, E. (1999) Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome. Journal of Medical Genetics 36, 881 887.
19. Hart, T. C., Hart, P. S., Michalec, M. D., Zhang, Y., Firatli, E., Van Dyke, T. E., Stabholz, A., Zlotogorski, A., Shapira, L. Soskolne, W. A. (2000b) Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. Journal of Medical Genetics 37, 88 94.
20. Hart, T. C., Hart, P. S., Michalec, M. D., Zhang, Y., Marazita, M. L., Cooper, M., Yassin, O. M., Nusier, M. Walker, S. (2000c) Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. Journal of Medical Genetics 37, 95 101.
21. Hewitt, C., McCormick, D., Linden, G., Turk, D., Stern, I., Wallace, I., Southern, L., Zhang, L., Howard, R., Bullon, P., Wong, M., Widmer, R., Gaffar, K. A., Awawdeh, L., Briggs, J., Yaghmai, R., Jabs, E. W., Hoeger, P., Bleck, O., Rudiger, S. G., Petersilka, G., Battino, M., Brett, P., Hattab, F., Al Hamed, M., Sloan, P., Toomes, C., Dixon, M., James, J., Read, A. P. Thakker, N. (2004) The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis. Human Mutation 23, 222 228.
22. Inalöz, H. S., Harman, M., Akdeniz, S., Inalöz, S. S. Isik, A. G. (2001) Atypical familial Papillon-Lefevre syndrome. Journal of the European Academy of Dermatology and Venereology 15, 48 50.
23. Lefevre, C., Blanchet-Bardon, C., Jobard, F., Bouadjar, B., Stalder, J. F., Cure, S., Hoffmann, A., Prud'Homme, J. F. Fischer, J. (2001) Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome. The Journal of Investigative Dermatology 117, 1657 1661.
24. Lundgren, T., Parhar, R. S., Renvert, S. Tatakis, D. N. (2005) Impaired cytotoxicity in Papillon-Lefevre syndrome. Journal of Dental Research 84, 414 417.
25. Meade, J. L., de Wynter, E. A., Brett, P., Sharif, S. M., Woods, C. G., Markham, A. F. Cook, G. P. (2006) A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity. Blood 107, 3665 3668.
26. Nakano, A., Nomura, K., Nakano, H., Ono, Y., LaForgia, S., Pulkkinen, L., Hashimoto, I. Uitto, J. (2001) Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene. The Journal of Investigative Dermatology 116, 339 343.
27. Noack, B., Görgens, H., Hoffmann, T., Fanghänel, J., Kocher, T., Eickholz, P. Schackert, H. K. (2004) Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefevre syndrome. Journal of Dental Research 83, 368 370.
28. Nuckolls, G. H. Slavkin, H. C. (1999) Paths of glorious proteases. Nature Genetics 23, 378 380.
29. Papillon, M. Lefèvre, P. (1924) Dens cas de keratodermie palmaire et plantaire symetrique familale (maladie de meleda) chez le frere et al soeur: coexdistence dans les deux cas d'alterations dentaires groups. Société française de Dermatologie et de Syphiligraphie 31, 82 87.
30. Pham, C. T., Ivanovich, J. L., Raptis, S. Z., Zehnbauer, B. Ley, T. J. (2004) Papillon-Lefevre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. Journal of Immunology 173, 7277 7281.
31. Pham, C. T. Ley, T. J. (1999) Dipeptidyl peptidase I is required for the processing and activation of granzymes A and B in vivo. Proceedings of the National Academy of Sciences of the USA 96, 8627 8632.
32. Rüdiger, S., Petersilka, G. Flemmig, T. F. (1999) Combined systemic and local antimicrobial therapy of periodontal disease in Papillon-Lefevre syndrome. A report of 4 cases. Journal of Clinical Periodontology 26, 847 854.
33. Schacher, B., Baron, F., Ludwig, B., Valesky, E., Noack, B. Eickholz, P. (2006) Periodontal therapy in siblings with Papillon-Lefevre syndrome and tinea capitis: a report of two cases. Journal of Clinical Periodontology 33, 829 836.
34. Selvaraju, V., Markandaya, M., Prasad, P. V., Sathyan, P., Sethuraman, G., Srivastava, S. C., Thakker, N. Kumar, A. (2003) Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefevre syndrome. BMC Medical Genetics 4, 5.
35. Soskolne, W. A., Stabholz, A., Dyke, T. E., Hart, T. C. Meyle, J. (1996) Partial expression of the Papillon-Lefevre syndrome in 2 unrelated families. Journal of Clinical Periodontology 23, 764 769.
36. Taibjee, S. M., Zhang, L., Chapple, I. L., Thakkar, N. Moss, C. (2005) Pyogenic skin infections as a presentation of Papillon-Lefèvre syndrome: phenotypic variability or under-reporting? Periodontal Practice Today 3, 191 197.
37. Tonetti, M. S. Mombelli, A. (1999) Early-onset periodontitis. Annals of Periodontology 4, 39 53.
38. Toomes, C., James, J., Wood, A. J., Wu, C. L., McCormick, D., Lench, N., Hewitt, C., Moynihan, L., Roberts, E., Woods, C. G., Markham, A., Wong, M., Widmer, R., Ghaffar, K. A., Pemberton, M., Hussein, I. R., Temtamy, S. A., Davies, R., Read, A. P., Sloan, P., Dixon, M. J. Thakker, N. S. (1999) Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nature Genetics 23, 421 424.
39. Ullbro, C., Brown, A. Twetman, S. (2005) Preventive periodontal regimen in Papillon-Lefevre syndrome. Pediatric Dentistry 27, 226 232.
40. Ullbro, C., El-Samadi, S., Boumah, C., Al-Yousef, N., Wakil, S., Twetman, S., Alfadley, A., Thestrup-Pedersen, K. Meyer, B. (2006) Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome. Acta Dermato-Venereologica 86, 3 7.
41. Zhang, Y., Hart, P. S., Moretti, A. J., Bouwsma, O. J., Fisher, E. M., Dudlicek, L., Pettenati, M. J. Hart, T. C. (2002) Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefevre syndrome. Human Mutation 20, 75.