Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing

Francesca Cortini, Chiara Villa, Barbara Marinelli, Romina Combi, Angela Cecilia Pesatori, Alessandra Bassotti

Research output: Contribution to journalReview articlepeer-review


Ehlers–Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) defined by joint laxity, skin alterations, and joint hypermobility. The latest EDS classification recognized 13 subtypes in which the clinical and genetic phenotypes are often overlapping, making the diagnosis rather difficult and strengthening the importance of the molecular diagnostic confirmation. New genetic techniques such as next-generation sequencing (NGS) gave the opportunity to identify the genetic bases of unresolved EDS types and support clinical counseling. To date, the molecular defects have been identified in 19 genes, mainly in those encoding collagen, its modifying enzymes or other constituents of the extracellular matrix (ECM). In this review we summarize the contribution of NGS technologies to the current knowledge of the genetic background in different EDS subtypes.

Original languageEnglish
Pages (from-to)265-275
Number of pages11
JournalArchives of Dermatological Research
Issue number4
Publication statusPublished - May 6 2019


  • Ehlers–Danlos syndrome
  • Heritable connective tissue disorders
  • Heterogeneity

ASJC Scopus subject areas

  • Dermatology


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