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. Author manuscript; available in PMC: 2017 Nov 1.
Published in final edited form as: J Neurosci Res. 2016 Nov 8;95(5):1144–1160. doi: 10.1002/jnr.23970

Table I.

Recurrent CNVs Associated with SZ

Location Type of CNV Psychiatric Disorder(s) Additional Symptoms Gene(s) of Interest Refs
1q21.1 Deletion and duplication ASD, ID, SZ Microcephaly (deletion) macrocephaly (duplication) PRKAB2 (Torres et al., 2016)
3q29 Deletion ASD, ID, SZ Speech delay, facial dysmorphisms DLG1, PAK2 (Cox and Butler, 2015b, Glassford et al., 2016)
7q11.2 Duplication ASD, ID, SZ Speech delay GTF2I (Somerville et al., 2005, Velleman and Mervis, 2011, Escudero and Johnstone, 2014, Adamo et al., 2015)
15q11.2 Deletion ASD, ID, SZ Motor and speech delay CYFIP1 (Cox and Butler, 2015a)
15q11.2-13.1 Duplication ASD, ID, SZ Language impairment, facial dysmorphisms HBII52 (a small nucleolar RNA) (Nakatani et al., 2009, Stewart et al., 2011, Coppola et al., 2013)
15q13.3 Deletion ASD, ID, SZ Hypotonia, cardiac defect CHRNA7 (Ziats et al., 2016)
16p11.2 Duplication ASD, ID, SZ Decreased body mass index DOC2A, TAOK2 (Arbogast et al., 2016)
16p13 Duplication ASD, ID, SZ Heart defects NDE1 (Kuang et al., 2011, Ramalingam et al., 2011, Kimura et al., 2015, Torres et al., 2016)
17p12 Deletion SZ Neuropathy PMP22 (Kirov et al., 2009, Luigetti et al., 2014)
17q12 Deletion ASD, ID, SZ Kidney abnormalities LHX1 (Moreno-De-Luca et al., 2010, Palumbo et al., 2014, Clissold et al., 2016)
22q11 Deletion ASD, ID, SZ Congenital defects, facial dysmorphisms COMT, PRODH (Bassett and Chow, 2008, Biswas and Furniss, 2016)

Multiple CNVs with their respective symptoms, characteristics, and corresponding references.