Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13
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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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In 2003, pEDS was mapped to a 7 cM (5.8 MB) interval on chromosome 12p13 in three families, but no candidate gene was identified.
“In 2003, pEDS was mapped to a 7 cM (5.8 MB) interval on chromosome 12p13 in three families [Rahman et al., 2003], but no candidate gene was identified.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Rahman et al., 2003
Electron microscopy examination of skin reported in seven individuals with C1R/C1S mutations showed decreased collagen content, abnormal variation in collagen fibril diameter and some abnormally shaped fibrils.
“Electron microscopy examination of skin reported in seven individuals with C1R/C1S mutations showed decreased collagen content, abnormal variation in collagen fibril diameter and some abnormally shaped fibrils [Rahman et al., 2003;Reinstein et al., 2012Reinstein et al., , 2013;;Kapferer-Seebacher et al., 2016], which is in line with further reports [Kobayasi, 2004;Mataix et al., 2008].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Rahman et al., 2003
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References 35 · Cited by 55
- Authors
- Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Douglas, J., Coleman, K., Bottomly, W. E., Campbell, M. E., Berglund, B., Nordenskjöld, M., Forssell, B., Burrows, N., Lunt, P., Young, I., Williams, N., Bignell, G. R., Futreal, P. A., & Pope, F. M.
- Affiliations
- Institute of Cancer Research (GB)
- University Hospital of Wales (GB)
- University of Sheffield (GB)
- Wellcome Sanger Institute (GB)
- King's College London (GB)
- Karolinska Institutet (SE)
- Addenbrooke's Hospital (GB)
- Leicester Royal Infirmary (GB)
- Corresponding author
- Rahman, Nazneen
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2003-07
- Volume
- 73
- Issue
- 1
- Pages
- 198-204
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1180581
- OpenAlex
- W1998723901
- Cited by
- 55
- References
- 35
- Citations by year
- 2025: 2 · 2024: 2 · 2023: 3 · 2022: 1 · 2021: 4 · 2020: 1 · 2019: 2 · 2018: 5 · 2017: 3 · 2016: 4 · 2014: 1 · 2013: 3 · 2012: 3
- FWCI
- 1.77
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Funders
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Dentistry › Periodontics › Oral microbiology and periodontitis research
- Health Sciences › Health Professions › Pharmacy › Oral and gingival health research
- Keywords
- autosomal dominant inheritance, genetic linkage, chromosome 12p13, genetic heterogeneity, candidate genes, mutation detection
- MeSH terms
- Chromosomes, Human, Pair 12, Ehlers-Danlos Syndrome, Female, Genetic Markers, Humans, Lod Score, Male, Pedigree, Periodontal Diseases, Age of Onset, Genetic Predisposition to Disease
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