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Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome

✍ Scribed by Muller, T.; Mizumoto, S.; Suresh, I.; Komatsu, Y.; Vodopiutz, J.; Dundar, M.; Straub, V.; Lingenhel, A.; Melmer, A.; Lechner, S.; Zschocke, J.; Sugahara, K.; Janecke, A. R.

Book ID: 121711554
Publisher: Oxford University Press
Year: 2013
Tongue: English
Weight: 533 KB
Volume: 22
Category: Article
ISSN: 0964-6906
DOI: 10.1093/hmg/ddt227

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Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder involving skin and joint laxity and tissue fragility. A new type of EDS, similar to kyphoscoliosis type but without lysyl hydroxylase deficiency, has been investigated. We have identified a homozygous CHST14 (carbohydrate sul