Table 4.
Copy number variants (CNV) associated with schizophrenia (SCZ) and other disorders.
| Region and CNV Type (Microarray) | Candidate Genes in the Region | Phenotypes * |
|---|---|---|
| 1q21.1 Deletion/Duplication | HYDIN | SCZ, ASD, ID, DD, ADHD, Anxiety, LD, IGE deficit |
| 2p16.3 Deletion/Duplication | NRXN1 | SCZ, ASD, ID, TS |
| 3q29 Deletion/Duplication | PAK2, DLG1, PAK3, DLG3 | SCZ, ASD, ID, ADHD, EP |
| 7q11.23 Duplication (Williams–Beuren syndrome region) |
SCZ, ASD, ID, EP | |
| 7q35-q36 Deletion | EN2, CNTNAP2 | SCZ, ASD, ID, EP |
| 15q11.2 Deletion (Angelman syndrome/ Prader-Willi syndrome region) |
CYF1P1, TUBGCP5, NIPA1, NIPA2 | SCZ, ASD, ID, DD, OCD, IGE deficit |
| 15q11-13 Duplication | GABRA5, GABRB3, GABG3, UBE3A, SNRPN, CHRNA7 | SCZ, ASD, ID, EP, Ataxia |
| 15q13.3 Deletion/Duplication | CHRNA7, OTUD7A | SCZ, ASD, ID, DD, ADHD, LD, EP |
| 16p11.2 Deletion/Duplication | DOC2A, ERK1 | SCZ, ID, DD, BD, EP, LD |
| 16p13.11 Deletion/Duplication | NDE1 | SCZ, ASD, ID, ADHD, EP, IGE deficit |
| 17q12 Deletion/Duplication | Undefined | SCZ, ASD, ID, EP |
| 22q11.2 Deletion/Duplication (DiGeorge/Vélocardio-facial syndrome region) | PRODH, COMT, DGCR6, TBX1, CRKL, FGF8 | ASD, SCZ, ID, DD, ADHD, EP, LD |
| 22q13.3 Deletion | SHANK3 | SCZ, ASD, ID, DD |
| Xp22.31 Deletion/Duplication | NLGN4 | SCZ, ASD, ID, BD, TS |
| Xq13.1 Deletion/Duplication | NLGN3 | SCZ, ASD, ID, BD |
Adapted from Tordjman et al. [20], Vassos et al. [72], Lacy and King [148], Malhotra and Sebat [149]. * Note: SCZ, Schizophrenia; ASD, Autism Spectrum Disorder; ID, Intellectual Disability; ADHD, Attention Deficit Hyperactivity Disorder, DD, Developmental Delay; BD, Bipolar Disorder; TS, Tourette syndrome; OCD, Obsessive Compulsive Disorder; EP, Epilepsy; LD, Learning Disorder.