ArticleJournal of medical genetics2000
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.
Article in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 102 citations in OpenAlex.
- Cathepsin C in health and disease: from structural insights to therapeutic prospects.Journal of translational medicine · 2024Review
- The oral microbiome of a family including Papillon-Lefèvre-syndrome patients and clinically healthy members.BMC oral health · 2024Article
- Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.Journal of dental research · 2022Article
- Diagnosis and Management of Inherited Palmoplantar Keratodermas.Acta dermato-venereologica · 2020Review
- Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.Journal of human genetics · 2019Article
- Periodontal disease susceptible matrilines in the Cayo Santiago Macaca mulatta macaques.Journal of periodontal research · 2019Article
- Serum Nutrient Levels and Aging Effects on Periodontitis.Nutrients · 2018Article
- Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.Saudi journal of biological sciences · 2016Article
- Familial periodontal disease in the Cayo Santiago rhesus macaques.American journal of primatology · 2016Article
- Review
- CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.Molecular genetics & genomic medicine · 2014Review
- Interleukin-1α -899 (+4845) C→T polymorphism is not associated with aggressive periodontitis susceptibility: A meta-analysis based on 19 case-control studies.Biomedical reports · 2014Article
- Periodontal disease immunology: 'double indemnity' in protecting the host.Periodontology 2000 · 2013Review
- Papillon-Lefevre syndrome: A case report of 2 affected siblings.Journal of Indian Society of Periodontology · 2013Article
- Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients.BMC medical genetics · 2013Article
- Cytokine production by leukocytes of Papillon-Lefèvre syndrome patients in whole blood cultures.Clinical oral investigations · 2012Article
- Papillon-Lefévre syndrome.Journal of oral and maxillofacial pathology : JOMFP · 2011Article
- Eponym: Papillon-Lefevre syndrome.European journal of pediatrics · 2011Review
- Genetic studies of craniofacial anomalies: clinical implications and applications.Orthodontics & craniofacial research · 2009Review
- Aggressive periodontitis is likely influenced by a few small effect genes.Journal of clinical periodontology · 2009Article
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9 authors at 1 institution in 1 country.
Funding
Abstract
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 affected by PPP in two nuclear sibships. The parents of the affected subjects are first cousins. We have localised a gene of major effect for PPP in this kindred (Zmax=3.55 for D11S901 at theta=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 affected 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 non-syndromic periodontitis and shows that non-syndromic PPP is an allelic variant of the type IV palmoplantar ectodermal dysplasias.
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