Skip to main content

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   [110, 111]
  1q21.1 Duplication Psychosis/schizophrenia   [112]
Williams-Beuren syndrome 7q11.23 Deletion Hypersociability Language skill preserved [113, 114]
7dupASD 7q11.23 Duplication ASD   [115, 116]
Angelman syndrome* 15q11-q13 Deletion (paternal) Hypersociability Deletion paternal allele ~75% cases
LoF mutation UBE3A ~ 11 %
Language skills impaired
[117,118,119]
Prader-Willi syndrome* 15q11-q13 Deletion (maternal) ASD Deletion maternal allele ~ 70% cases
Maternal uniparental dysomy ~ 20 %
[120,121,122]
15q11-q13 microduplication syndrome 15q11-q13 Duplication ASD   [123]
  1. *Syndromes related not only to direct CNV but also to changes in gene dosage due to gene imprinting