Table 2.
Copy number variants (CNVs) implicated in ASD and SSD.
| Region and type | Candidate genes | Phenotypes |
|---|---|---|
| 1q21.1 Del | Unidentified | SCZ, ASD, ID, ADHD, deficit IGE |
| 1q21.1 Dup | Unidentified | ASD, ID, ADHD |
| 2p16.3 Del | NRXN1 | SCZ, ASD, ID |
| 3q29 Del | PAK2 | ACZ, ID, ADHD |
| 3q29 Dup | Unidentified | ID |
| 15q11.2 Del | CYF1P1 | ID, DD, SCZ, ASD, IGE, OCD, MDD |
| 15q11-13 Dup | GABRA5, GABRB3, GABG3, and others | SCZ, ASD, ID, Ataxia |
| 15q13.3 Del | CHRNA7 | SCZ, ASD, ID |
| 16p11.2 Del | DOC2A, ERK1 | SCZ, ASD, ID, learning disorder |
| 16p11.2 Dup | DOC2A, ERK1 | SCZ, ASD, ID, DD |
| 16p13.11 Del | NDE1 | SCZ, ASD, ID |
| 16p13.11 Dup | NDE1 | SCZ, ASD, ID, ADHD, IGE |
| 17q12 | Undefined | SCZ, ASD, ID |
| 22q11.2 | PRODH, COMT, DGCR6, TRX1 | SCZ, ASD, ID, epilepsy |
| 22q11.21 | PRODH, COMT, DGCR6, TRX1 | ID, DD |
| 22q13.3 | SHANK3 | ID, DD, ASD, SCZ |
Modified by de Lacy and King (9).
ID, intellectual disability; ADHD, attention-deficit hyperactivity disorder, DD, developmental delay; OCD, obsessive–compulsive disorder; MMDD, major depressive disorder; IGE, immunoglobulin E deficit.