Genetics and Function of Neocortical GABAergic Interneurons in Neurodevelopmental Disorders

Table 2

Findings in autistic children and correlations in mice models.

Findings		References
Humans
FMR1	Patients with fragile X syndrome often display autistic traits	Levitas et al. [133]
		Brown et al. [134]
NRL4X/NRL3	Point mutations in NRL4X and NRL3 associated with X-linked autism	Jamain et al. [135]
	Point mutations in NRL4X in nonsyndromic autism	Laumonnier et al. [136]
SHANK3	Mutations in SHANK3 in nonsyndromic autism	Durand et al. [137]
		Gauthier et al. [138]
		Moessner et al. [139]
SHANK2	Mutations in SHANK2 in nonsyndromic autism	Berkel et al. [140]
NRXN1	Mutations in NRXN1 nonsyndromic autism	Szatmari et al. [141]
		Kim et al. [142]
GAD65/67	↓ levels of GAD65/67 in cortex	Fatemi et al. [143]
Dlx1/2	Polymorphisms in Dlx1/2 with increased susceptibility to autism	Liu et al. [144]
15q11-13	Maternal duplications in 15q11-13 in nonsyndromic autism	Baker et al. [145]
	including GABRA5, GABRG3, GABRB3 (GABAAR subunits)	Hogart et al. [146]
MECP2	Mutations in MECP2 explain the majority of Rett syndrome.	Amir et al. [147]
	Patients display autistic behaviors.	Buyse et al. [148]
MET	Polymorphisms in MET promoter associated with autism	Jackson et al. [149]
	Susceptibility locus for autism at 7q31 includes MET gene.	Campbell et al. [150]
Mice
Fmr1	Fmr1 k/o: behavioral anomalies improve with glutamatergic antagonists	Dolen et al. [151]
		Bear et al. [152, 153]
Neuroligins/; neurexins	NRL1/2 expression in nonneuronal cells trigger synapse formation in presynaptic cells	Scheiffele et al. [154]
	NL-1 overexpression in hippocampal neurons promotes assembly of excitatory and inhibitory synapses and knock-down results in loss of inhibitory > excitatory synapses	Chih [155]
	Presynaptic β-neurexin induces GABA and glutamate synapse differentiation in postcell	Graf et al. [156]
	NRL1,3,4 localise at glutamatergic synapses, NRL2 at both excitatory and inhibitory	Graf et al. [156]
MecP2	Binds methylated CPG islands and exerts epigenetic control of UBE3A and GABR3	Samaco et al. [157]
	Interneuron selective loss of MecP2 recapitulates the Rett-like behavioral aN in mice	Chao et al. [158]
uPAR, HGF, MET	uPAR^−/− displays 50% loss of IN in cortex and seizure susceptibility	Powell et al. [11]
	uPAR is required for the processing of HGF (an interneuron motogen),	Powell et al. [159]
	HGF, through its receptor MET, can rescue the phenotype of uPAR^−/− mice	Bae et al. [160]
	Interneuron selective MET ablation: ↓ PV cortex, ↑ striatal PV cells, disrupts reversal learning	Martins et al. [161]