Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions - PubMed
5 hours ago
- #Williams syndrome
- #neurodevelopmental disorder
- #organoids
- Williams syndrome (WS) is a pediatric genetic disorder caused by a microdeletion at chromosome 7q11.23, affecting 26-28 genes.
- Clinical features include cardiovascular anomalies, distinctive craniofacial morphology, and neurodevelopmental deficits like hypersociability, cognitive impairment, and anxiety.
- Mouse models and forebrain organoids have advanced understanding of WS mechanisms, replicating key neurodevelopmental phenotypes.
- Single-gene knockout strains (e.g., Gtf2i, Gtf2ird1, Clip2, Limk1) and multigene deletion strains contribute to mechanistic studies and therapeutic screening.
- Forebrain organoids derived from patients or gene editing provide insights into progenitor dynamics, synaptic function, and ribosome biogenesis.
- Despite progress, effective diagnostic and therapeutic approaches for WS remain unavailable.
- Integration of animal models, organoids, and advanced technologies is essential for biomarker discovery and mechanism-based therapies.