Advanced search
1 file | 513.34 KB

Genetics of the Ehlers-Danlos syndrome: more than collagen disorders

Tim Van Damme (UGent) , Delfien Syx (UGent) , Paul Coucke (UGent) , Sofie Symoens (UGent) , Anne De Paepe (UGent) and Fransiska Malfait (UGent)
Author
Organization
Abstract
Introduction: The Ehlers-Danlos syndrome (EDS) comprises a clinically and genetically diverse group of heritable connective tissue disorders, character- ized by joint hypermobility, skin hyperextensibility and generalized connec- tive tissue friability. Although the initially characterized subtypes were shown to result from defects in fibrillar collagens (types I, III, V) or their modifying enzymes, recent discoveries have implicated other molecules, such as tenascin X and glycosaminoglycan synthesis enzymes, in the patho- genesis of these disorders. Areas covered: This article summarizes the current knowledge on the biosyn- thesis of collagen fibrils and focuses on the molecules involved in this process, especially those relevant to the pathogenesis of EDS. It also provides an over- view of the general clinical presentation of EDS and the genetic defects underlying its different subtypes. Expert opinion: The recent identification of several novel types of EDS has greatly expanded its clinical and genetic heterogeneity, and the genomic era promises to provide even more insights into the molecular basis of unre- solved types of EDS. At the same time the underlying pathophysiologic mech- anisms in these disorders are still poorly understood. Therefore, future research should focus on the elucidation of these mechanisms, and the iden- tification of clinically reliable biomarkers and targetable signaling pathways and cellular processes.
Keywords
TENASCIN-X DEFICIENCY, BONE MORPHOGENETIC PROTEIN-1, BRITTLE CORNEA SYNDROME, FIBRONECTIN MATRIX, TUMOR-SUPPRESSOR PRDM5, CONNECTIVE-TISSUE, MAMMALIAN TOLLOID-LIKE, EXTRACELLULAR-MATRIX, OSTEOGENESIS-IMPERFECTA, Ehlers-Danlos syndrome, glycosaminoglycan, connective tissue, clinical features, mutation, phenotype, collagen, next-generation sequencing, SYNDROME TYPE-IV, genotype

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 513.34 KB

Citation

Please use this url to cite or link to this publication:

Chicago
Van Damme, Tim, Delfien Syx, Paul Coucke, Sofie Symoens, Anne De Paepe, and Fransiska Malfait. 2015. “Genetics of the Ehlers-Danlos Syndrome: More Than Collagen Disorders.” Expert Opinion on Orphan Drugs 3 (4): 379–392.
APA
Van Damme, T., Syx, D., Coucke, P., Symoens, S., De Paepe, A., & Malfait, F. (2015). Genetics of the Ehlers-Danlos syndrome: more than collagen disorders. EXPERT OPINION ON ORPHAN DRUGS, 3(4), 379–392.
Vancouver
1.
Van Damme T, Syx D, Coucke P, Symoens S, De Paepe A, Malfait F. Genetics of the Ehlers-Danlos syndrome: more than collagen disorders. EXPERT OPINION ON ORPHAN DRUGS. 2015;3(4):379–92.
MLA
Van Damme, Tim et al. “Genetics of the Ehlers-Danlos Syndrome: More Than Collagen Disorders.” EXPERT OPINION ON ORPHAN DRUGS 3.4 (2015): 379–392. Print.
@article{5980361,
  abstract     = {Introduction: The Ehlers-Danlos syndrome (EDS) comprises a clinically and genetically diverse group of heritable connective tissue disorders, character- ized by joint hypermobility, skin hyperextensibility and generalized connec- tive tissue friability. Although the initially characterized subtypes were shown to result from defects in fibrillar collagens (types I, III, V) or their modifying enzymes, recent discoveries have implicated other molecules, such as tenascin X and glycosaminoglycan synthesis enzymes, in the patho- genesis of these disorders.
Areas covered: This article summarizes the current knowledge on the biosyn- thesis of collagen fibrils and focuses on the molecules involved in this process, especially those relevant to the pathogenesis of EDS. It also provides an over- view of the general clinical presentation of EDS and the genetic defects underlying its different subtypes.
Expert opinion: The recent identification of several novel types of EDS has greatly expanded its clinical and genetic heterogeneity, and the genomic era promises to provide even more insights into the molecular basis of unre- solved types of EDS. At the same time the underlying pathophysiologic mech- anisms in these disorders are still poorly understood. Therefore, future research should focus on the elucidation of these mechanisms, and the iden- tification of clinically reliable biomarkers and targetable signaling pathways and cellular processes.},
  author       = {Van Damme, Tim and Syx, Delfien and Coucke, Paul and Symoens, Sofie and De Paepe, Anne and Malfait, Fransiska},
  issn         = {2167-8707},
  journal      = {EXPERT OPINION ON ORPHAN DRUGS},
  keywords     = {TENASCIN-X DEFICIENCY,BONE MORPHOGENETIC PROTEIN-1,BRITTLE CORNEA SYNDROME,FIBRONECTIN MATRIX,TUMOR-SUPPRESSOR PRDM5,CONNECTIVE-TISSUE,MAMMALIAN TOLLOID-LIKE,EXTRACELLULAR-MATRIX,OSTEOGENESIS-IMPERFECTA,Ehlers-Danlos syndrome,glycosaminoglycan,connective tissue,clinical features,mutation,phenotype,collagen,next-generation sequencing,SYNDROME TYPE-IV,genotype},
  language     = {eng},
  number       = {4},
  pages        = {379--392},
  title        = {Genetics of the Ehlers-Danlos syndrome: more than collagen disorders},
  url          = {http://dx.doi.org/10.1517/21678707.2015.1022528},
  volume       = {3},
  year         = {2015},
}

Altmetric
View in Altmetric
Web of Science
Times cited: