Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility - PubMed
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- #OLA1 Gene
- #Neurodevelopmental Disorder
- #Joint Hypermobility
- Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility, linked to fourteen individuals from nine families.
- The disorder presents with distinct facies and hypermobility resembling Ehlers-Danlos syndrome, confirmed by loss-of-function variants impairing cell migration and proliferation.
- Proband-derived neurons show impaired adhesion and cytoskeletal control, with C. elegans models indicating reduced neurite numbers and suppressed microtubule dynamics affecting axon regrowth.
- Transcriptomic analysis suggests dysregulation of key signaling pathways underlies the condition, supporting an autosomal-recessive mechanism.