Skip to main content

Table 1 iPSC-based models of ASD discussed in this review

From: Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD

Gene Model type Phenotype observed Reference
ATRX, AFF2, KCNQ2, SCN2A, and ASTN2 Homozygous deletion Reduced synaptic activity [53]
CACNA1C ASD-related mutations Disrupted interneurons migration [54]
CNTN5 and EHMT2+ Heterozygous deletion Hyperexcitability. [55]
CNTNAP2 Heterozygous deletion Increased neuronal network activity [56]
FMR1 Heterozygous deletion Impaired retinoic acid (RA)-dependent homeostatic synaptic plasticity [57]
MECP2 Heterozygous deletion or duplication Altered synaptic density, altered calcium signaling; altered neuronal firing rate and synchronization; delayed GABA switch [58,59,60,61]
NLGN4 Gene overexpression and ASD-related mutations Increased excitatory synapse density, altered synaptic strength [62, 63]
NRXN1α Homozygous and heterozygous deletion, ASD-related mutations Impaired synaptic strength, altered synaptic calcium signaling [64,65,66]
SHANK2 Heterozygous deletion and ASD-related mutations Hyperconnectivity, enhanced branching complexity, increased synapse density [67]
SHANK3 Heterozygous deletion and ASD-related mutations Hypoconnectivity, reduced synaptogenesis, and dendritic arborization; impaired neuronal excitability and excitatory synaptic transmission; impaired HCN channels [68,69,70,71,72,73,74]
TSC1/2 Homozygous and heterozygous deletion Altered neuronal excitability and activity, altered synchrony (cortical neurons); hypoexcitability (cerebellar Purkinje cells) [75,76,77,78]
Other ASD models   Aberrant neuronal maturation, altered neuronal differentiation and synaptic formation [79, 80]