Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Ehlers-Danlos syndromes (EDS) are heritable connective tissue disorders associated with joint hypermobility, skin extensibility and tissue fragility.  We report the results of whole exome sequencing and genetic burden analysis for 174 patients with complex EDS, recruited from two UK specialist clinics, who remained without a molecular diagnosis despite previous genetic testing.  Ten patients were found to have a diagnosis of Loeys-Dietz syndrome, myopathic or classical EDS.  We identified rare variants in genes and pathways previously associated with EDS, EDS-like syndromes, aneurysm predisposition and candidate genes.  Our results demonstrate the clinical utility of broad genetic testing in patients with complex EDS. (By Professor Timothy J Aitman, on behalf of the authors, )

Professor Timothy J Aitman (left) and Dr. Anthony M Vandersteen (right)

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