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The Ehlers-Danlos Syndrome

  • Fransiska Malfait
  • Anne De Paepe
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 802)

Abstract

The Ehlers-Danlos Syndromes comprise a heterogeneous group of diseases, which are characterized by fragility of the soft connective tissues and widespread manifestations in skin, ligaments and joints, blood vessels and internal organs. The clinical spectrum varies from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. The current Villefranche classification recognizes six subtypes, most of which are linked to mutations in one of the genes encoding fibrillar collagen proteins or enzymes involved in post-translational modification of these proteins. Establishing the correct EDS subtype has important implications for genetic counselling and management and is supported by specific biochemical and molecular investigations. Over the last years, the characterisation of several new EDS variants has broadened insights into the molecular pathogenesis of EDS by implicating genetic defects in the biosynthesis of other extracellular matrix molecules, such as proteoglycans and tenascin-X, or genetic defects in molecules involved in intracellular trafficking, secretion and assembly of extracellular matrix proteins.

Keywords

Ehlers-Danlos syndrome (EDS) Villefranche classification Six subtypes Non-functional COL5A1 allele COL3A1 gene Beighton hypermobility score COL1A1 and COL1A2 mutations 

Abbreviations

ATCS

Adducted Thumb Clubfoot Syndrome

ECM

Extracellular Matrix

EDS

Ehlers-Danlos Syndrome

ER

Endoplasmic Reticulum

HP

Hydroxylysylpyridinoline

JHS

Joint Hypermobility Syndrome

LP

Lysylpyridinoline

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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Center for Medical GeneticsGhent University Hospital, Ghent UniversityGhentBelgium

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