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.
Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing / F. Cortini, C. Villa, B. Marinelli, R. Combi, A.C. Pesatori, A. Bassotti. - In: ARCHIVES OF DERMATOLOGICAL RESEARCH. - ISSN 0340-3696. - 311:4(2019 May), pp. 265-275.
|Titolo:||Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing|
|Parole Chiave:||Ehlers–Danlos syndrome; Heritable connective tissue disorders; Heterogeneity|
|Settore Scientifico Disciplinare:||Settore MED/44 - Medicina del Lavoro|
|Data di pubblicazione:||mag-2019|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1007/s00403-019-01894-0|
|Appare nelle tipologie:||01 - Articolo su periodico|
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