Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefevre Syndrome

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dc.contributor.authorCagli, NA
dc.contributor.authorHakki, SS
dc.contributor.authorDursun, R
dc.contributor.authorToy, H
dc.contributor.authorGokalp, A
dc.contributor.authorRyu, OH
dc.contributor.authorHart, PS
dc.date.accessioned2020-03-26T16:56:41Z
dc.date.available2020-03-26T16:56:41Z
dc.date.issued2005
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractBackground: Papillon-Lefevre Syndrome (PLS) is an autosomal recessive disease characterized by palmoplantar hyperkeratosis and severe periodontitis affecting both primary and secondary dentitions. Cathepsin C (CTSC) gene mutations are etiologic for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. Methods: A 4-year-old female (case 1) and her 10-year-old sister (case 2) presented with palmoplantar skin lesions, tooth mobility, and advanced periodontitis. Based on clinical findings, the cases were diagnosed with PLS. Mutational screening of the CTSC gene was conducted for the cases, and their clinically unaffected parents and brother. Biochemical analysis was performed for CTSC, cathepsin G (CTSG), and elastase activity in neutrophils for all members of the nuclear family. The initial treatment included oral hygiene instruction, scaling and root planing, and systemic amoxicillin-metronidazole therapy. Results: CTSC mutational screening identified a c.415G > A transition mutation. In the homozygous state, this mutation was associated with an almost complete loss of activity of CTSC, CTSG, and elastase. Although monthly visits, including scaling, polishing, and 0.2% chlorhexidine digluconate irrigation were performed to stabilize the periodontal condition, case I lost all her primary teeth. In case 2, some of the permanent teeth could be maintained. Conclusions: This report describes two siblings with a cathepsin C gene mutation that is associated with the inactivity of cathepsin C and several neutrophil serine proteases. The failure of patients to respond to periodontal treatment is discussed in the context of these biological findings.en_US
dc.identifier.doi10.1902/jop.2005.76.12.2322en_US
dc.identifier.endpage2329en_US
dc.identifier.issn0022-3492en_US
dc.identifier.issn1943-3670en_US
dc.identifier.issue12en_US
dc.identifier.pmid16332247en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage2322en_US
dc.identifier.urihttps://dx.doi.org/10.1902/jop.2005.76.12.2322
dc.identifier.urihttps://hdl.handle.net/20.500.12395/19628
dc.identifier.volume76en_US
dc.identifier.wosWOS:000234229600019en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWILEYen_US
dc.relation.ispartofJOURNAL OF PERIODONTOLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectcathepsin Cen_US
dc.subjectcathepsin Gen_US
dc.subjectelastaseen_US
dc.subjectgene mutationen_US
dc.subjectPapillon-Lefevre Syndromeen_US
dc.titleClinical, genetic, and biochemical findings in two siblings with Papillon-Lefevre Syndromeen_US
dc.typeArticleen_US

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