Table 2.
Reciprocal CNVs associated with mirrored behavioral phenotypes
| Disease | Locus | Type of mutation CNV | Behavioral phenotype | Comments | Refs |
|---|---|---|---|---|---|
| 1q21.1 | Deletion | ASD | [109, 110] | ||
| 1q21.1 | Duplication | Psychosis/schizophrenia | [111] | ||
| Williams-Beuren syndrome | 7q11.23 | Deletion | Hypersociability | Language skill preserved | [112, 113] |
| 7dupASD | 7q11.23 | Duplication | ASD | [114, 115] | |
| Angelman syndrome* | 15q11-q13 | Deletion (paternal) | Hypersociability |
Deletion paternal allele ~75% cases LoF mutation UBE3A ~ 11 % Language skills impaired |
[116–118] |
| Prader-Willi syndrome* | 15q11-q13 | Deletion (maternal) | ASD |
Deletion maternal allele ~ 70% cases Maternal uniparental dysomy ~ 20 % |
[119–121] |
| 15q11-q13 microduplication syndrome | 15q11-q13 | Duplication | ASD | [122] |
*Syndromes related not only to direct CNV but also to changes in gene dosage due to gene imprinting