Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.

Abstract

Ehlers-Danlos syndrome (EDS) is a genetically and clinically heterogeneous group of connective tissue disorders that typically present with skin hyperextensibility, joint hypermobility, and tissue fragility. The major cause of EDS appears to be impaired biosynthesis and enzymatic modification of collagen. In this chapter, we discuss two types of EDS that are associated with proteoglycan abnormalities: spondylodysplastic EDS and musculocontractural EDS. Spondylodysplastic EDS is caused by pathogenic variants in B4GALT7 or B3GALT6, both of which encode key enzymes that initiate glycosaminoglycan synthesis. Musculocontractural EDS is caused by mutations in CHST14 or DSE, both of which encode enzymes responsible for the post-translational biosynthesis of dermatan sulfate. The clinical and molecular characteristics of both types of EDS are described in this chapter.

• Authors: Noriko Miyake, Tomoki Kosho, Naomichi Matsumoto
• Journal: Advances in experimental medicine and biology (Adv Exp Med Biol) Vol. 1348 Pg. 235-249 ( 2021) ISSN: 0065-2598 [Print] United States
• PMID: 34807422 (Publication Type: Journal Article)
• Copyright: © 2021. Springer Nature Switzerland AG.

Chemical References

• Glycosaminoglycans
• Collagen
• B3GALT6 protein, human
• Galactosyltransferases
• Sulfotransferases

Topics

• Collagen
• Ehlers-Danlos Syndrome (diagnosis, genetics)
• Galactosyltransferases (genetics)
• Glycosaminoglycans
• Humans
• Mutation
• Sulfotransferases