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Complete homozygous deletion of CTSC in an I ranian family with P apillon– L efèvre syndrome

2013; Wiley; Volume: 53; Issue: 7 Linguagem: Inglês

10.1111/j.1365-4632.2012.05769.x

1365-4632

Hans K. Schackert, Farzaneh Agha‐Hosseini, Heike Görgens, Maria Jatzwauk, Stephanie von Kannen, Barbara Noack, Uwe Eckelt, Per Hoffmann, Samira Basir Shabestari, Parvin Mehdipour,

Oral and Maxillofacial Pathology

International Journal of DermatologyVolume 53, Issue 7 p. 885-887 Case Report Complete homozygous deletion of CTSC in an Iranian family with Papillon–Lefèvre syndrome Hans K. Schackert MD, PhD, Corresponding Author Hans K. Schackert MD, PhD Department of Surgical Research, Technische Universität Dresden, Dresden, Germany Correspondence Professor Hans K. Schackert, md, phd Department of Surgical Research Technische Universität Dresden Fetscherstrasse 74 D-01307 Dresden Germany E-mail: [email protected]Search for more papers by this authorFarzaneh Agha-Hosseini MD, PhD, Farzaneh Agha-Hosseini MD, PhD Department of Oral Medicine, Dental Research Center, School of Dentistry, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this authorHeike Görgens PhD, Heike Görgens PhD Department of Surgical Research, Technische Universität Dresden, Dresden, GermanySearch for more papers by this authorMaria Jatzwauk, Maria Jatzwauk Department of Surgical Research, Technische Universität Dresden, Dresden, GermanySearch for more papers by this authorStephanie von Kannen, Stephanie von Kannen Department of Surgical Research, Technische Universität Dresden, Dresden, GermanySearch for more papers by this authorBarbara Noack MD, PhD, Barbara Noack MD, PhD Department of Periodontology, Technische Universität Dresden, Dresden, GermanySearch for more papers by this authorUwe Eckelt MD, PhD, Uwe Eckelt MD, PhD Department of Head and Neck Surgery, Technische Universität Dresden, Dresden, GermanySearch for more papers by this authorPer Hoffmann PhD, Per Hoffmann PhD Institute of Human Genetics, Biomedical Center, University of Bonn, Bonn, GermanySearch for more papers by this authorSamira B. Shabestari MD, PhD, Samira B. Shabestari MD, PhD Department of Oral Medicine, Dental Research Center, School of Dentistry, Zanjan University of Medical Sciences, Zanjan, IranSearch for more papers by this authorParvin Mehdipour MD, PhD, Parvin Mehdipour MD, PhD Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this author Hans K. Schackert MD, PhD, Corresponding Author Hans K. Schackert MD, PhD Department of Surgical Research, Technische Universität Dresden, Dresden, Germany Correspondence Professor Hans K. Schackert, md, phd Department of Surgical Research Technische Universität Dresden Fetscherstrasse 74 D-01307 Dresden Germany E-mail: [email protected]Search for more papers by this authorFarzaneh Agha-Hosseini MD, PhD, Farzaneh Agha-Hosseini MD, PhD Department of Oral Medicine, Dental Research Center, School of Dentistry, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this authorHeike Görgens PhD, Heike Görgens PhD Department of Surgical Research, Technische Universität Dresden, Dresden, GermanySearch for more papers by this authorMaria Jatzwauk, Maria Jatzwauk Department of Surgical Research, Technische Universität Dresden, Dresden, GermanySearch for more papers by this authorStephanie von Kannen, Stephanie von Kannen Department of Surgical Research, Technische Universität Dresden, Dresden, GermanySearch for more papers by this authorBarbara Noack MD, PhD, Barbara Noack MD, PhD Department of Periodontology, Technische Universität Dresden, Dresden, GermanySearch for more papers by this authorUwe Eckelt MD, PhD, Uwe Eckelt MD, PhD Department of Head and Neck Surgery, Technische Universität Dresden, Dresden, GermanySearch for more papers by this authorPer Hoffmann PhD, Per Hoffmann PhD Institute of Human Genetics, Biomedical Center, University of Bonn, Bonn, GermanySearch for more papers by this authorSamira B. Shabestari MD, PhD, Samira B. Shabestari MD, PhD Department of Oral Medicine, Dental Research Center, School of Dentistry, Zanjan University of Medical Sciences, Zanjan, IranSearch for more papers by this authorParvin Mehdipour MD, PhD, Parvin Mehdipour MD, PhD Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this author First published: 04 April 2013 https://doi.org/10.1111/j.1365-4632.2012.05769.xCitations: 3 Conflicts of interest: None. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1Papillon MM, Lefèvre P. Deux cas de kératodermie palmaire et plantaire symétrique familiale (maladie de Meleda) chez le frère et la soeur. Coexistence dans les deux cas d'altérations dentaires graves. Bull Soc Fr Dermatol Syph 1924; 31: 82–87. 2Nickles K, Schacher B, Schuster G, et al. Evaluation of two siblings with Papillon–Lefèvre syndrome 5 years after treatment of periodontitis in primary and mixed dentition. J Periodontol 2011; 82: 1536–1547. 3Gorlin RJ, Sedano H, Anderson VE. The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. A clinical and genetic analysis of the Papillon–Lefèvre syndrome. J Pediatr 1964; 65: 895–908. 4Haneke E. The Papillon–Lefèvre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. Hum Genet 1979; 51: 1–35. 5Hart TC, Hart PS, Bowden DW, et al. Mutations of the cathepsin C gene are responsible for Papillon–Lefèvre syndrome. J Med Genet 1999; 36: 881–887. 6Toomes C, James J, Wood AJ, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999; 23: 421–424. 7Noack B, Gorgens H, Schacher B, et al. Functional cathepsin C mutations cause different Papillon–Lefèvre syndrome phenotypes. J Clin Periodontol 2008; 35: 311–316. 8Hewitt C, McCormick D, Linden G, et al. The role of cathepsin C in Papillon–Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. Hum Mutat 2004; 23: 222–228. 9Hart PS, Zhang Y, Firatli E, et al. Identification of cathepsin C mutations in ethnically diverse Papillon–Lefèvre syndrome patients. J Med Genet 2000; 37: 927–932. 10Selvaraju V, Markandaya M, Prasad PV, et al. Mutation analysis of the cathepsin C gene in Indian families with Papillon–Lefèvre syndrome. BMC Med Genet 2003; 4: 5. 11Jouary T, Goizet C, Coupry I, et al. Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon–Lefèvre syndrome. J Invest Dermatol 2008; 128: 322–325. Citing Literature Volume53, Issue7July 2014Pages 885-887 ReferencesRelatedInformation