Hypermobile EDS Linked to Multi-System Genetic Changes, AI Study Finds

A study of 116 people from 43 families using whole-exome sequencing and AI analysis found that hypermobile EDS likely arises from multiple genetic changes across collagen-related genes, immune system genes (notably HLA), and mitochondrial energy genes, indicating a broader genetic architecture beyond collagen alone. Immune-gene enrichment was seen in about 75% of patients, and energy/metabolism links to skeletal fragility were suggested; replication in independent populations is needed.