| Genes in ASD |
Genes affecting signaling pathways |
Mutations contributing to autistic phenotypes |
References |
| Calcium/Calmodulin Dependent Protein Kinase IV (CAMKIV) |
CaM signaling |
Deficits in learning and memory formation |
[13, 119] |
| Calcium/Calmodulin Dependent Protein Kinase II (CAMKIIα) |
CaM signaling |
Memory impairment |
[13, 171, 220] |
| Synaptic Ras GTPase Activating Protein 1 (SYNGAP1) |
Excitatory/glutamatergic signaling |
Non-syndromic mental retardation |
[42, 221] |
| Glutamate Ionotropic Receptor NMDA Type Subunit 2B (GRIN2B) |
Excitatory/glutamatergic signaling |
Deficits in learning and memory |
[42, 222] |
| Fibroblast Growth Factor 7 (FGF7) |
FGF signaling |
Epileptic seizures |
[116, 184] |
| Metabotropic glutamate receptor (mGLUR5) |
FGF signaling |
Aberrant dendrite growth leading to cognitive abnormalities |
[119, 223, 224] |
| Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) |
GABA signaling |
Cognitive and behavioral deficits |
[225, 236] |
| Methyl-CpG Binding Protein 2 (MECP2) |
GABA signaling |
Cognitive and behavioral deficits, impaired coordination |
[194] |
| Solute Carrier Family 6 Member 11 (SLC6A11) |
GABA signaling |
Cognitive deficits |
[30, 227] |
| Neurexin 1 (NRXN1) |
GABA and glutamate signaling |
Cognitive impairments, behavioral and learning deficits |
[228–230] |
| Glutamate Ionotropic Receptor Delta Type Subunit 1 (GRID1) |
Glutamate signaling |
Impaired emotional and social behaviors |
[231] |
| Calcium Voltage-Gated Channel Subunit Alpha1 C (CACNA1C) |
Glutamate signaling |
Impaired memory, hippocampal plasticity and anxiety-related behavior |
[232] |
| SH3 And Multiple Ankyrin Repeat Domains 1 (SHANK1) |
Glutamate signaling |
Increased anxiety, reduced long-term memory |
[31] |
| SH3 And Multiple Ankyrin Repeat Domains 2 (SHANK2) |
Glutamate signaling |
Increased anxiety, impaired social behaviors |
[31] |
| Glycine Receptor Alpha 2 (GLRA2) |
Glycinergic signaling |
Deficits in learning and memory |
[102] |
| Tuberous Sclerosis Complex Subunit 1 and 2 (TSC1 and TSC2) |
mTOR signaling pathway |
Learning deficit and impaired social behavior |
[233] |
| Neurofibromin 1 (NF1) |
mTOR signaling pathway |
Learning and attention deficits |
[233] |
| Fragile X Mental Retardation 1 (FMR1) |
mTOR signaling pathway |
Cognitive deficits, increased anxiety |
[233] |
| Contactin Associated Protein Like 2 (CNTNAP2) |
mTOR signaling |
Impaired social and repetitive behaviors |
[234, 235] |
| Phosphatase and Tensin Homolog (PTEN) |
mTOR signaling pathway |
ASD like social behavior |
[233] |
| Homer Homolog 1 HOMER1 |
mGLUR signaling |
Learning and memory deficits |
[60, 236] |
| Molybdenum Cofactor Sulfurase (MOCOS) |
Purine metabolism pathway |
Autistic features |
[54] |
| Retinoid-Related Orphan Receptor-Alpha (RORA) |
Retinoic acid (RA) signaling |
Language impairment |
[80, 237] |
| Forkhead Box N1 (FOXN1) |
Retinoic acid (RA) signaling |
Brain alterations contributing to autistic features (hypothetical) |
[238, 239] |
| Aldehyde Dehydrogenase 1 Family Member A3 (ALDH1A3) |
Retinoic acid (RA) signaling |
Autistic traits |
[183] |
| Patched Domain Containing 1 (PTCHD1) |
Sonic hedgehog (SHH) signaling |
Cognitive alterations |
[116, 175] |
| 7-Dehydrocholesterol Reductase (DHCR7) |
Sonic hedgehog (SHH) signaling |
Intellectual impairment |
[116, 177] |
| Engrailed Homeobox 2 (EN2) |
Sonic hedgehog (SHH) signaling |
Deficits in social behavior |
[116, 240] |
| Distal-Less Homeobox (DLX) |
TGF-β/BMP signaling |
Autism like behaviors |
[116, 241, 242] |
| Thyroid Hormone Receptor Alpha 1 (THRA1) |
Thyroid pathway |
Impaired memory, anxiety, locomotor dysfunction |
[243, 244] |
| Parkinsonism Associated Deglycase 2 (PARK2) |
Ubiquitin pathway |
Impaired speech and stereotypical behaviors |
[89, 245] |
| Chromodomain Helicase DNA Binding Protein 8 (CHD8) |
Wnt signaling (canonical) |
Defective neural progenitor proliferation and differentiation |
[121] |
| Catenin Beta 1 (CTNNB1) |
Wnt signaling (canonical) |
Defect in brain development |
[246, 247] |
| Prickle Planar Cell Polarity Protein 2 (PRICKLE2) |
Wnt signaling (non-canonical) |
Abnormalities in behavior, learning and social interaction |
[248] |
| Transducin Beta Like 1 X-Linked (TBL1X) |
Wnt signaling |
Intellectual disability and autistic features |
[249] |
| SH3 And Multiple Ankyrin Repeat Domains 3 (SHANK3) |
Wnt signaling |
Delayed or absent speech, intellectual disability |
[58, 246, 250] |
| Adenomatosis Polyposis Coli (APC) |
Wnt signaling |
Memory impairment, autistic behaviors |
[251] |
| Ubiquitin Protein Ligase E3A (UBE3A) |
Wnt signaling |
Developmental delay, learning difficulties |
[252, 253] |
| Glycogen Synthase Kinase 3 Beta (GSK3β) |
Wnt signaling |
Anxiety and impaired social interaction |
[13, 254] |
| Disrupted in Schizophrenia 1 (DISC1) |
Wnt signaling |
Failure is establishment of long-term synaptic potentiation (LTP) causing learning and memory deficits |
[119] |
| Dedicator of Cytokinesis 4 (DOCK4) |
Wnt signaling |
Suppression of dendrite growth causing impairments in cognitive and language abilities |
[123] |
| Transcription Factor 7 Like 2 (TCF7L2) |
Wnt signaling |
Cognitive and sensorimotor impairments |
[119, 255] |
| Neuroligin 3 and 4 (NLGN3 and NLGN4) |
Wnt signaling |
Failure in synapse formation resulting in impaired communication abilities |
[97, 119] |
| Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A (DYRK1A) |
Wnt signaling |
Head size abnormalities |
[134, 256] |
| Transducin Beta Like 1 X-Linked Receptor 1 (TBL1XR1) |
Wnt signaling |
Delayed language development |
[257] |
| DIX Domain Containing 1 (DIXDC1) |
Wnt signaling |
Impaired social behavior and anxiety |
[116, 126] |
| Ankyrin 3 (ANK3) |
Wnt signaling |
Autistic features |
[116, 258] |
| Prostaglandin E2 (PGE2) |
Wnt signaling |
Hyperactivity, repetitive behaviors and anxiety |
[116, 259] |
