Similar Ehlers–Danlos Syndrome Profiles Produced by Variants in Multiple Collagen Genes, 2025, Tonk et al

Similar Ehlers–Danlos Syndrome Profiles Produced by Variants in Multiple Collagen Genes

Sahil S Tonk, Golder N Wilson

Background
Despite increased attention to double-jointedness or joint hypermobility as seen in connective tissue dysplasias like Ehlers–Danlos syndrome, improved clinical DNA correlations are needed to reduce decadal delays in diagnosis.

Methods
To this end, patterns of history (among 80) and physical (among 40) findings are compared for 121 Ehlers–Danlos syndrome patients with recurring variants in collagen type I, II, III, V, VI, VII, IX, XI, and XII genes and novel ones in type XV, XVII, XVIII, and XXVII.

Results
A recognizable tissue laxity–dysautonomia profile that transcended collagen biochemical class, triple helix component, mutation type, or presence of accessory DNA variants was defined with a few exceptions. Patients with novel variations experienced severe symptoms at younger ages (6–10 versus 14–18 years) and those with collagen type III variations had more than one significant difference in finding frequencies (spinal disk issues 75% versus 49%; bloating-reflux 100% versus 69%; migraines or menorrhagia 92% versus 53%).

Conclusions
These results suggest that collagen DNA variants of diverse gene and molecular type can demonstrate EDS disposition and hasten its diagnosis when distress and disease become manifest.

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