Čes. stomatol. Prakt. zub. lék. (Czech Dental Journal) 2009; 109(3): 31-36

Papillon-Lefevre Syndrome

L. Izakovičová Hollá1,2,*, A. Fassmann1, M. Kukletová1, V. Sazmová1
1 Stomatologická klinika LF MU a FN u sv. Anny, Brno
2 Ústav patologické fyziologie LF MU, Brno

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by severe early-onset periodontal destruction involving both the deciduous and permanent dentition and skin lesions of palmoplantar hyperkeratosis. Recently it was found that PLS patients carry loss-of-function mutations in the gene encoding cathepsin C (CTSC). The aim of this study was analyzed the CTST gene in one Czech family with PLS. Peripheral blood samples were obtained from individuals belonging to this family for DNA isolation. Mutations were identified by direct sequencing of genomic DNA amplified for selected regions of the cathepsin C gene. 12-old year patient and his grandfather had a classic PLS phenotype. We analyzed all exons of the CTSC gene and identified a mutation in intron 1 (rs217077). Both affected individuals were homozygous for T allele; our child's mother and unaffected brother carried a heterozygote combination of this mutation. Dipeptidyl-peptidase I encoded by the CTSC gene play an immune and inflammatory role. Many different mutations in this gene have been reported in patients with PLS from several ethnic groups. This is the first genetic study of Papillon-Lefevre syndrome in the Czech population.

Keywords: Papillon-Lefevre syndrome; hyperkeratosis; periodontitis; gene; mutation; cathepsin C

Published: September 1, 2009  Show citation

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Izakovičová Hollá L, Fassmann A, Kukletová M, Sazmová V. Papillon-Lefevre Syndrome. Čes. stomatol. Prakt. zub. lék. 2009;109(3):31-36.
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    References

    1. Adkison, A. M., Raptis, S. Z., Kelley, D. G., Pham, C. T.: Dipeptidyl peptidase I activates neutrophil-derived serine proteases and regulates the development of acute experimental arthritis. J. Clin. Invest, 109, 2002, 3, s. 363-371. Go to original source... Go to PubMed...
    2. Almuneef, M., Khenaizan, S., Al Ajaji, S., Al Anazi, A.: Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association. Pediatrics, 111, 2003, 1, s. e85-e88. Go to original source... Go to PubMed...
    3. Cury, V. F., Gomez, R. S., Costa, J. E., Friedman, E., Boson, W., De Marco, L.: A homozygous cathepsin C mutation associated with Haim-Munk syndrome. Br. J. Dermatol, 152, 2005, 2, s. 353-356. Go to original source... Go to PubMed...
    4. De Haar, S. F., Jansen, D. C., Schoenmaker, T., De Vree, H., Everts, V., Beertsen, W.: Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs. Hum Mutat, 23, 2004, 5, s. 524. Go to original source... Go to PubMed...
    5. De Haar, S. F., Hiemstra, P. S., van Steenbergen, M. T., Everts, V., Beertsen, W.: Role of polymorphonuclear leukocyte-derived serine proteinases in defense against Actinobacillus actinomycetemcomitans. Infect Immun, 74, 2006, 9, s. 5284-5291. Go to original source... Go to PubMed...
    6. De Vree, H., Steenackers, K., De Boever, J. A.: Periodontal treatment of rapid progressive periodontitis in 2 siblings with Papillon-Lefevre syndrome: 15-year follow-up. J. Clin. Periodontol, 27, 2000, 5, s. 354-360. Go to original source... Go to PubMed...
    7. Gorlin, R. J., Sedano, H., Anderson, V. F.: The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. J. Pediatr., 65, 1964, s. 895-908. Go to original source... Go to PubMed...
    8. Gorlin, R. J., Cohen, M. M., Levin, L. S.: Syndromes of the head and neck. Third edition. Oxford University Press, 1990, s. 853-855.
    9. Hart, T. C., Hart, P. S., Bowden, D. W., Michalec, M. D., Callison, S. A., Walker, S. J., Zhang, Y., Firatli, E.: Mutation of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. J. Med. Genet., 36, 1999, 12, s. 881-887. Go to original source...
    10. 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.: Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients. J. Med. Genet., 37, 2000, 12, s. 927-932. Go to original source... Go to PubMed...
    11. Hart, T. C., Hart, P. S., Michalec, M. D., Zhang, Y., Firatli, E., Van Dyke, T. E., Stabholz, A., Zlatogorski, A., Shapira, L., Soskolne, W. A.: Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. J. Med. Genet., 37, 2000, 2, s. 88-94. Go to original source... Go to PubMed...
    12. Hart, T. C., Hart, P. S., Michalec, M. D., Zhang, Y., Marazita, M. L., Cooper, M., Yassin, O. M., Nusier, M., Walker, S.: Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. J. Med. Genet., 37, 2000, 2, s. 95-101. Go to original source... Go to PubMed...
    13. 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., Briqqs, J., Yaghmai, R., Jabs, E. W., Hoeger, P., Bleck, O., Rüdiger, 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.: The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis. Hum. Mutation, 23, 2004, 3, s. 222-228. Go to original source... Go to PubMed...
    14. Laass, M. W., Hennies, H. C., Preis, S., Stevens, H. P., Jung, M., Leigh, I. M., Wienker, T. F., Reis, A.: Mapping of Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. Hum. Genet., 101, 1997, 3, s. 376-382. Go to original source... Go to PubMed...
    15. Lundgren, T., Parhar, R. S., Renvert, S., Tatakis, D. N.: Impaired cytotoxicity in Papillon-Lefèvre syndrome. J. Dent. Res., 84, 2005, 5, s. 414-417. Go to original source... Go to PubMed...
    16. Meade, J. L., de Wynter, E. A., Brett, P., Sharif, S. M., Woods, C. G., Markham, A. F., Cook, G. P.: A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity. Blood, 107, 2006, s. 9, s. 3665-3668. Go to original source... Go to PubMed...
    17. Noack, B., Görgens, H., Hoffmann T., Fanghänel, J., Kocher, T., Eickholz, P., Schackert, H. K.: Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome. J. Dent. Res., 83, 2004, s. 5, s. 368-370. Go to original source... Go to PubMed...
    18. Noack, B., Görgens, H., Schacher, B., Puklo, M., Eickholz, P., Hoffmann, T., Schackert, H. K.: Functional Cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes. J. Clin. Periodontol, 35, 2008, 4, s. 311-316. Go to original source... Go to PubMed...
    19. Papillon, M. M., Lefevre, P.: Deux cas de keratodermie palmaire et plantaire symetrique familiale (Maladie de Meleda) chez le frere et la soeur. Coexistence dans les deux cas d'alterations dentaires graves. Bull. Soc. Fr. Dermatos Syph., 31, 1924, s. 82-87.
    20. Pham, C. T., Ivanovich, J. L., Raptis, S. Z., Zehnbauer, B., Ley, T. J.: Papillon-Lefevre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. J. Immunol., 173, 2004, 12, s. 7277-7281. Go to original source... Go to PubMed...
    21. Rao, N. V., Rao, G. V., Hoidal. J. R.: Human dipeptidyl-peptidase I. Gene characterization, localization, and expression. J. Biol. Chem., 272, 1997, 15, s. 10260-10265. Go to original source... Go to PubMed...
    22. Rüdiger, S., Petersilka, G., Flemmig, T. F.: Combined systemic and local antimicrobial therapy of periodontal disease in Papillon-Lefevre syndrome. J. Clin. Periodontol., 26, 1999, 12, s. 847-854.
    23. Schacher, B., Baron, F., Ludwig, B., Valesky, E., Noack, B., Eickholz, P.: Periodontal therapy in siblings with Papillon-Lefevre syndrome and tinea capitis: a report of two cases. J. Clin. Periodontol., 33, 2006, 11, s. 829-836. Go to original source... Go to PubMed...
    24. Selvaraju, V., Markandaya, M., Prasad, P. V., Sathyan, P., Sethuraman, G., Srivastava, S. C., Thakker, N., Kumar, A.: Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome. BMC Med. Genet., 4, 2003, s. 5. Go to original source... Go to PubMed...
    25. Tonetti, M. S., Mombelli, A.: Early-onset periodontitis. Ann. Periodontol., 4, 1999; 1, s. 39-53. Go to original source... Go to PubMed...
    26. Toomes, C., James, J., Wood, A. J., Wu, C. L., McCormick, D., Lench, N., Hewitt, C., Moynihan, L., Roberts, E., Woods, S. 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.: Loss of function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat. Genet., 23, 1999, 4, s. 421-424. Go to original source... Go to PubMed...
    27. Wara-Aswapati, N., Lertsirivorakul, J., Nagasawa, T., Kawashima, Y., Ishikawa, I.: Papillon-Lefèvre syndrome: serum immunoglobulins G (IgG) subclass antibody response to periodontopathic bacteria. A case-report. J. Periodontol., 72, 2001, 12, s. 1747-1754. Go to original source... Go to PubMed...
    28. Wiebe, C. B., Häkkinen, L., Putnins, E. E., Walsh, P., Larjava, H. S.: Successful periodontal maintenance of a case with Papillon-Lefevre syndrome: 12-year follow-up and review of the literature. J. Periodontol., 72, 2001, 6, s. 824-830. Go to original source... Go to PubMed...

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