J Genet Med.  2019 Jun;16(1):43-47. 10.5734/JGM.2019.16.1.43.

Ehlers-Danlos syndrome VIII with novel C1R variant accompanying white matter changes

Affiliations
  • 1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. bhlee@amc.seoul.kr
  • 2Department of Pediatrics, Jeju National University School of Medicine, Jeju, Korea.
  • 3Department of Rheumatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 4Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

Ehlers-Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intractable periodontal inflammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with onset in the childhood or adolescence. In a recent report, heterozygous variants of the C1R or C1S related to the classical complement pathway were identified in families with history of EDS VIII. The current report describes a Korean 34-year-old female carrying a novel missense variant of C1R c.925T>G (p.Cys309Gly) and exhibiting early severe periodontitis, skin fragility, and joint hypermobility. The patient also had frontal, parietal, and temporal white matter brain lesions without definite vascular abnormalities on brain magnetic resonance imaging, which have not been surveyed meticulously in EDS VIII. Considering the genetic alteration of classic complement pathways in this condition, it is necessary to carefully observe multisystemic inflammation processes such as changes in brain white matter.

Keyword

Ehlers-Danlos syndrome type VIII; Complement C1r; White matter
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