Table 2 Reciprocal CNVs associated with mirrored behavioral phenotypes
From: The sociability spectrum: evidence from reciprocal genetic copy number variations
Disease | Locus | Type of mutation CNV | Behavioral phenotype | Comments | Refs |
|---|---|---|---|---|---|
1q21.1 | Deletion | ASD | |||
1q21.1 | Duplication | Psychosis/schizophrenia | [112] | ||
Williams-Beuren syndrome | 7q11.23 | Deletion | Hypersociability | Language skill preserved | |
7dupASD | 7q11.23 | Duplication | ASD | ||
Angelman syndrome* | 15q11-q13 | Deletion (paternal) | Hypersociability | Deletion paternal allele ~75% cases LoF mutation UBE3A ~ 11 % Language skills impaired | |
Prader-Willi syndrome* | 15q11-q13 | Deletion (maternal) | ASD | Deletion maternal allele ~ 70% cases Maternal uniparental dysomy ~ 20 % | |
15q11-q13 microduplication syndrome | 15q11-q13 | Duplication | ASD | [123] |