The Ehlers-Danlos syndrome.
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.
Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.
Fransiska
F
Malfait
Anne
A
De Paepe
D001205:Ascorbic Acid / Q000627:therapeutic use; D003094:Collagen / Q000235:genetics*; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D005786:Gene Expression Regulation; D005817:Genetic Counseling; D006490:Hemostatics / Q000627:therapeutic use; D006801:Humans; D007596:Joints / Q000187:drug effects / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D020033:Protein Isoforms / Q000235:genetics; D011509:Proteoglycans / Q000235:genetics; D015398:Signal Transduction; D012867:Skin / Q000187:drug effects / Q000378:metabolism / Q000473:pathology*; D019063:Tenascin / Q000235:genetics
D006490:Hemostatics; D020033:Protein Isoforms; D011509:Proteoglycans; D019063:Tenascin; C081865:tenascin X; D003094:Collagen; D003894:Deamino Arginine Vasopressin; D001205:Ascorbic Acid