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.

Angaben zum Objekt

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: 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)

Beteiligte, Orts- und Zeitangaben

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

Weitere Informationen

• DOI: 10.1515/medgen-2024-2062
• URN: urn:nbn:de:101:1-2412031836057.684957792528
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 15.08.2025, 07:20 MESZ