Table 2.
Candidate genes of ASDs whose expression has either been assessed on post-mortem brain tissue and or in iPSC-derived cells.
| Gene | Name | Location | Function | Link to autism | References |
|---|---|---|---|---|---|
| RELN | Reelin | 7q22.1 | Part of the extracellular matrix and has a crucial role in cell positioning and migration processes | Genetic Association, Trend toward increased methylation in promoter (Cerebellum) | (63, 65, 76) |
| BDNF | Brain Derived Neurotrophic Factor | 11p14.1 | Neurotrophic factor, promote cell survival, Involved in synaptic plasticity | Increased levels in blood samples from patients with ASDs, Increased expression in BA46 | (68, 69, 71) |
| MARK1 | Microtubule Affinity Regulating Kinase 1 | 1q41 | Regulates the affinity between MAPs and microtubules | Genetic Association, Increased expression in BA46 | (24) |
| SLC25A12 | Solute Carrier family 25 member 12 | 2q31.1 | Mitochondrial Aspartate Glutamate transporter | Genetic Association | (67, 70) |
| GAD1 | Glutamate Decarboxylase | 2q31.1 | Catalyzes the production of GABA from L-glutamic acid | Decreased level in ASDs | (65) |
| GRM5 | Glutamate Metabotropic Receptor 5 | 11q14.2-q14.3 | Involved in the regulation of neural network activity and synaptic plasticity. | Increase expression in Fragile X Syndrome | (77, 78) |
| TRPC6 | Transient Receptor Potential cation Channel subfamily C member 6 | 11q22.1 | Receptor-activated calcium channel in the cell membrane. Activated by DiacylGlycerol | Disrupted in Cases with ASDs | (79) |
| MBD5 | Methyl-CpG Binding Domain Protein 5 | 2q23.1 | Methyl-CpG-binding protein | Microdeletion in cases with Autism | (80, 81) |
| SATB2 | SATB homeobox 2 | 2q33.1 | DNA Binding Protein | Disruption by Chromosomal Rearrangement in patient with ASDs | (7, 81) |
| EHMT1 | Euchromatic Histone lysine Methyltransferase 1 | 9q34.3 | Histone Methyl Transferase | (7, 82) | |
| TCF4 | Transcription Factor 4 | 18q21.2 | Basic helix-loop-helix transcription factor | (7, 82) | |
| CHD8 | Chromodomain Helicase DNA binding protein 8 | 14q11.2 | Chromatin remodeling protein | (6, 83, 84) | |
| GRIN2B | Glutamate ionotropic Receptor NMDA type subunit 2B | 12p13.1 | Subunit of the NMDA receptor | (6, 7, 83, 85) |