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Am J Hum Genet. 2003 Jul;73(1):198-204. Epub 2003 May 29.

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

Author information

1
Section of Cancer Genetics, Institute of Cancer Research, Brooks-Lawley Building, 15 Cotswold Road, Sutton, Surrey SM2 5NG, United Kingdom. nazneen@icr.ac.uk

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.

PMID:
12776252
PMCID:
PMC1180581
DOI:
10.1086/376416
[Indexed for MEDLINE]
Free PMC Article

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