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Ehlers–Danlos Syndrome Associated with Glycosaminoglycan Abnormalities

  • Noriko MiyakeEmail author
  • Tomoki Kosho
  • Naomichi Matsumoto
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 802)

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: the progeroid type of EDS and dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient EDS. The progeroid type of EDS is caused by mutations in B4GALT7 or B3GALT6, both of which encode key enzymes that initiate glycosaminoglycan (GAG) synthesis. D4ST1-deficient EDS is caused by mutations in CHST14, which encodes an enzyme responsible for post-translational modification of GAG. The clinical and molecular characteristics of both types of EDS are described in this chapter.

Keywords

Ehlers–Danlos syndrome (EDS) Progeroid type B4GALT7B3GALT6 Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 UDP-Gal:βGal β 1,3-galactosyltransferase polypeptide 6 Dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient EDS CHST14 

Abbreviations

CHST14

Carbohydrate (N-Acetylgalactosamine 4-O) Sulfotransferase 14

D4ST1

Dermatan 4-O-sulfotransferase 1

EDS

Ehlers–Danlos Syndrome

GAG

Glycosaminoglycan

Gal

Galactose

GalNAc

N-Acetylgalactosamine

GlcA

Glucuronic Acid

IdoA

Iduronic Acid

PG

Proteoglycan

Xyl

Xylose

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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Noriko Miyake
    • 1
    Email author
  • Tomoki Kosho
    • 2
  • Naomichi Matsumoto
    • 1
  1. 1.Department of Human GeneticsYokohama City University Graduate School of MedicineYokohamaJapan
  2. 2.Department of Medical GeneticsShinshu University School of MedicineMatsumotoJapan

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