ArticleAmerican journal of human genetics2003
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 55 citations in OpenAlex.
- Impact of a Heterozygous C1RCells · 2025Article
- Inborn errors of immunity-related immunological mechanisms and pharmacological therapy alternatives in periodontitis.Clinical and experimental immunology · 2025Review
- Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.Frontiers in genetics · 2023Article
- The Ehlers-Danlos syndromes.Nature reviews. Disease primers · 2020Review
- Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.American journal of human genetics · 2016Article
- Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.European journal of human genetics : EJHG · 2013Article
- Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients.Case reports in dermatological medicine · 2013Article
- Article
- Ehlers-Danlos syndrome type IV.Orphanet journal of rare diseases · 2007Review
- Whole-genome linkage disequilibrium screening for complex traits in horses.Molecular genetics and genomics : MGG · 2007Article
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Authors and funding
18 authors at 9 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Ehlers-Danlos VIII (EDS-VIII) is an autosomal dominant disorder characterized by severe early-onset periodontal disease in conjunction with the features of Ehlers-Danlos syndrome (EDS). We performed a genomewide linkage search in a large Swedish pedigree with EDS-VIII and established linkage to a 7-cM interval on chromosome 12p13, generating a maximum multipoint LOD score of 5.17. Analysis of four further pedigrees with EDS-VIII revealed two consistent with linkage to 12p13 and two in which linkage could be excluded, indicating that EDS-VIII is a genetically heterogeneous disorder. Chromosome 12p13 has not previously been implicated in either EDS or periodontal disease and contains no known collagen genes or collagen-processing enzymes. Mutational screening of the microfibril-associated glycoprotein-2 gene, a strong candidate within the minimal interval, did not reveal any likely pathogenic mutations.
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