Chromosome 8p structural variants drive diverse neurodevelopmental phenotypes, yet their molecular effects remain unclear. Using AVITI24™ to integrate spatial transcriptomic, proteomic, and morphological profiling in iPSC-derived neuronal models, revealed mutation-specific disruptions to neural development.
- 8p deletions reduced expression of genes involved in synaptic and neuronal differentiation
- Inversion duplications disrupted RNA–protein spatial organization
- Morphological profiling revealed distinct phenotypes across mutation classes