Partial expression of the Papillon‐Lefèvre syndrome in 2 unrelated families

Soskolne, W. A.; Stabholz, Adam; Dyke, Thomas E. Van; Hart, Thomas C.; Meyle, Joerg

doi:10.1111/j.1600-051x.1996.tb00607.x

Cited by 35 publications

(32 citation statements)

References 26 publications

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“…47 We have determined that a descendant from the Cochin isolate with partial expression (no periodontitis) described by Soskolne et al 47 is homozygous for a CTSC missense mutation (Q286R). All other family members homozygous for the Q286R mutation have both severe periodontitis and palmoplantar lesions 28.…”

Section: Discussionmentioning

confidence: 99%

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation

Hart

Michalec

et al. 2000

Journal of Medical Genetics

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Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. The condition may occur as part of a recognised syndrome or may occur as an isolated finding. Both autosomal dominant and recessive forms of Mendelian transmission have been reported for PPP. We report a consanguineous Jordanian family with four members aVected by PPP in two nuclear sibships. The parents of the aVected subjects are first cousins. We have localised a gene of major eVect for PPP in this kindred (Zmax=3.55 for D11S901 at =0.00) to a 14 cM genetic interval on chromosome 11q14 flanked by D11S916 and D11S1367. This PPP candidate interval overlaps the region of chromosome 11q14 that contains the cathepsin C gene responsible for Papillon-Lefèvre and Haim-Munk syndromes. Sequence analysis of the cathepsin C gene from PPP aVected subjects from this Jordanian family indicated that all were homozygous for a missense mutation (1040A→G) that changes a tyrosine to a cysteine. All four parents were heterozygous carriers of this Tyr347Cys cathepsin C mutation. None of the family members who were heterozygous carriers for this mutation showed any clinical findings of PPP. None of the 50 controls tested were found to have this Tyr347Cys mutation. This is the first reported gene mutation for nonsyndromic periodontitis and shows that non-syndromic PPP is an allelic variant of the type IV palmoplantar ectodermal dysplasias. (J Med Genet 2000;37:95-101)

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Section: Discussionmentioning

confidence: 99%

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation

Hart

Michalec

et al. 2000

Journal of Medical Genetics

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“…Another source of variance may be the different mutations of the CTSC gene itself. Atypical PLS cases have been described exhibiting CTSC gene mutations [14,33,[41][42][43][44][45]. These cases included mild or missing skin findings as well as later onset of periodontitis or mild periodontal destruction.…”

Section: Discussionmentioning

confidence: 95%

Cytokine production by leukocytes of Papillon–Lefèvre syndrome patients in whole blood cultures

et al. 2011

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Papillon-Lefèvre syndrome (PLS) is characterised by aggressively progressive periodontitis combined with palmo-plantar hyperkeratosis. It is caused by "loss of function" mutations in the cathepsin C gene. The hypothesis behind this study is that PLS patients' polymorphonuclear leukocytes (PMNs) produce more proinflammatory cytokines to compensate for their reduced capacity to neutralize leukotoxin and to eliminate Aggregatibacter actinomycetemcomitans. Production of more interleukin (IL)-8 would result in the attraction of more PMNs. The aim of this study was to evaluate the cytokine profile in PLS patients' blood cultures. Blood was sampled from eight PLS patients (one female) from six families (antiinfective therapy completed: six; edentulous: two) with confirmed cathepsin C mutations and deficient enzyme activity. Nine healthy males served as controls. Whole blood cultures were stimulated with highly pure lipopolysaccharide (LPS) from Escherichia coli R515 and IL-1β plus tumor necrosis factor (TNF)-α. Thereafter, release of IL-1β (stimulation: LPS and LPS plus adenosine triphosphate), IL-6, IL-8, interferon-inducible protein (IP)-10, and interferon (IFN)-γ (stimulation: LPS, IL-1β/TNFα) were detected by ELISA. Medians of cytokine release were, with the exception of IP-10, slightly higher for PLS than for controls' cultures. None of these differences reached statistical significance. Increased production of IL-1β, IL-6, IL-8, IP-10, or IFNγ as a significant means to compensate for diminished activity and stability of polymorphonuclear leukocyte-derived proteases could not be confirmed in this study. Cytokine profiles in blood cultures may not be used to identify PLS patients.

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“…PLS'da konak savunmas›n› değerlendirmiş olan çal›şmalar, PMNL'lerde bask›lanm›ş kemotaktik ve fagositik fonksiyon varl›ğ›, düşük integrin ekspresyonu ve artm›ş süperoksit üretimini kapsayan immünolojik fonksiyon bozukluklar›na dikkat çekmektedirler (3,12,(16)(17)(18)(19)(20)(21)(22). Bu sonuçlar›n tersine, PMNL kemotaksi fonksiyonunun normal olduğunu ve periferal lenfosit populasyonlar›nda bir fark gözlenmediğini rapor eden çal›şmalar da mevcuttur (23)(24)(25)(26).…”

Section: Discussionunclassified

Papillon-Lefevre Sendromu İle İli̇şki̇li̇ Peri̇odonti̇ti̇s Olgusu: 1 Yillik Taki̇p

Özçelik¹,

Haytaç²

2008

Ankara Üniversitesi Diş Hekimliği Fakültesi Dergisi

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Papillon-Lefevre Syndrome (PLS) is a rare autosomal recessive disease with a very low prevalence. Characteristic symptoms are diffuse palmar and plantar hyperkeratosis combined with a rapidly progressive periodontal breakdown affecting both dentitions, resulting in premature loss of deciduous and permanent teeth. This paper reports the treatment planning of the severely affected periodontal component of a patient with Papillon-Lefevre Syndrome.Clinical examination which included conventional periodontal measurements and radiographic analysis showed severe inflamation and bone loss. Total blood count, neutrophil function tests and alkaline phosphatase, CD 2, 3, 4, 5, 8, 11b, 16, HLA-DR and immunoglobulin analysis were made. Occurence of major suspected periodontopathic bacteria which included Porphyromonas gingivalis, Bacteriodes forsythus and Trepenoma denticola was determined by BANA (N-benzoyl-DL-argininenaphthylamide) test. As the result of clinical, immunological, microbiological and hematological findings, the patient was diagnosed as having PLS. The treatment consisted of extraction of all primary teeth and systemic antibiotic therapy. After an edentulous period complete dentures were inserted 3 months after the extractions. The patient is still under control after one year.

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Partial expression of the Papillon‐Lefèvre syndrome in 2 unrelated families

Cited by 35 publications

References 26 publications

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation

Cytokine production by leukocytes of Papillon–Lefèvre syndrome patients in whole blood cultures

Papillon-Lefevre Sendromu İle İli̇şki̇li̇ Peri̇odonti̇ti̇s Olgusu: 1 Yillik Taki̇p

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