Heterozygous mutant neurexins resulted in impaired neurotransmitter release and elevation of CASK (synaptic scaffolding protein) (Pak et al., 2015), and half reduction in NRXN1 expression led to changes in gene expression of cell adhesion and neuron differentiation pathways (Zeng et al., 2013). These studies highlight the utility of in vitro studies for manipulating human genes in human cells and generating human isogenic controls.
