E. Reinstein and R. Wang contributed equally to this work.
Article first published online: 15 MAR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 4, pages 742–747, April 2011
How to Cite
Reinstein, E., Wang, R. Y., Zhan, L., Rimoin, D. L. and Wilcox, W. R. (2011), Ehlers–Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree. Am. J. Med. Genet., 155: 742–747. doi: 10.1002/ajmg.a.33914
How to Cite this Article: Reinstein E, Wang RY, Zhan L, Rimoin DL, Wilcox WR. 2011. Ehlers–Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree. Am J Med Genet Part A 155:742–747.
- Issue published online: 24 MAR 2011
- Article first published online: 15 MAR 2011
- Manuscript Accepted: 2 JAN 2011
- Manuscript Received: 15 OCT 2010
- Ehlers–Danlos syndrome;
- periodontal disease;
- genetic heterogeneity;
- connective tissue
The periodontitis type of Ehlers–Danlos syndrome (EDS type VIII) is distinguished from other subtypes of EDS by severe periodontitis leading to premature loss of permanent teeth. A limited number of patients and pedigrees with this condition have been described. We report a four-generation EDS VIII kindred with a phenotype of joint hypermobility, normal scar formation but eventual scar atrophy, and severe periodontal disease. Similar to other subtypes of EDS, the age of onset and severity of symptoms were variable amongst affected individuals, confirming the presence of intra-familial variability in this subtype. This pedigree is not linked to the previously reported region, confirming genetic locus heterogeneity in EDS type VIII. © 2011 Wiley-Liss, Inc.