Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes

Abstract: With increased application of Next Generation Sequencing (NGS) in the diagnosis of monogenic Ehlers-Danlos syndromes, there is an increased probability to identify variants of unknown significance. Additionally, in some cases no genetic alteration may be identified whilst there is a strong clinical suspicion on a monogenic EDS type. The diagnostic value of non-genetic investigations, which prior to NGS were quite commonly used to support the clinical diagnosis of monogenic EDS types, is explored. In addition, new structural/functional investigations that could deliver evidence towards pathogenicity are discussed. It appears that certain functional and/or structural investigations used frequently in the past can remain helpful and can provide additional evidence that may confirm a clinical diagnosis of a monogenic EDS type. However, there is a need for the development of novel structural/functional studies for monogenic types of EDS. The level of evidence of such studies for application in the established diagnostic DNA variant classification criteria remains to be determined.

Object Details

• Location: Deutsche Nationalbibliothek Frankfurt am Main
• Extent: Online-Ressource
• Language: Englisch

References and Relationships

• Bibliographic citation: Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes ; volume:36 ; number:4 ; year:2024 ; pages:247-254 ; extent:8 ; Medizinische Genetik ; 36, Heft 4 (2024), 247-254 (gesamt 8)

Contributors, Places and Time

• Creator: Dijk, Fleur S. van ; Angwin, Chloe ; Ghali, Neeti ; Zschocke, Johannes ; Wagner, Bart

Further information

• DOI: 10.1515/medgen-2024-2062
• URN: urn:nbn:de:101:1-2412031836057.684957792528
• Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Last update: 15.08.2025, 7:20 AM CEST