Genetic Causes and Ankle Instability in Hypermobile Ehlers-Danlos Syndrome (hEDS): An Integrated Analysis Using Whole-Exome Sequencing and Stress Imaging - PubMed
2 hours ago
- #hEDS Genetics
- #Whole-Exome Sequencing
- #Ankle Instability
- The study investigates genetic causes and ankle instability in hypermobile Ehlers-Danlos syndrome (hEDS) using whole-exome sequencing (WES) and stress imaging techniques.
- It includes an observational cohort of 22 unrelated patients and a three-generation Korean family, with healthy young adults as controls, all assessed under the 2017 hEDS diagnostic criteria.
- Family-based WES identified variants in genes CD44, ITIH2, and ADAM21 in affected individuals, while unrelated patients showed variants in 103 candidate genes, with 17 involving pathways similar to the family-derived genes.
- hEDS patients exhibited significantly greater ankle instability measures, including higher manual anterior drawer test grade, increased ATFL length and dynamic change, and greater anterior talar translation and talar tilt compared to controls.
- Findings suggests hEDS is multifactorial, linking genetic pathways to ankle instability, potentially improving diagnostic accuracy and informing therapeutic strategies for the condition.