Rahman, Nazneen, Dunstan, Melanie  ORCID: https://orcid.org/0000-0003-3817-2142, Teare, M. Dawn, Hanks, Sandra, Douglas, Jenny, Coleman, Kim, Bottomly, William E., Campbell, Mary E., Berglund, Britta, Nordenskjöld, Magnus, Forssell, Bengt, Burrows, Nigel, Lunt, Peter, Young, Ian, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Bignell, Graham R., Futreal, P. Andrew and Pope, F. Michael
2003.
Ehlers-Danlos sndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.
The American Journal of Human Genetics
73
(1)
, pp. 198-204.
10.1086/376416
|
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.
| Item Type: | Article |
|---|---|
| Date Type: | Publication |
| Status: | Published |
| Schools: | Research Institutes & Centres > MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Schools > Medicine Research Institutes & Centres > Neuroscience and Mental Health Research Institute (NMHII) |
| Subjects: | R Medicine > R Medicine (General) |
| Publisher: | Cell Press |
| ISSN: | 0002-9297 |
| Last Modified: | 31 Oct 2022 09:44 |
| URI: | https://orca.cardiff.ac.uk/id/eprint/82302 |
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