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Ehlers-Danlos sndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13

Rahman, Nazneen, Dunstan, Melanie, 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, 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

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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: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Medicine
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
Publisher: Cell Press
ISSN: 0002-9297
Last Modified: 28 Jun 2019 02:42
URI: http://orca-mwe.cf.ac.uk/id/eprint/82302

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