Association of Copy Number Variations in Autism Spectrum Disorders: A Systematic Review

Table 2

Top CNV loci for ASD susceptibility.

CNV locus	Study design	Patients	CNV type	Candidate gene	References
1q21.1	Illumina 1M-single array	996 ASD; patients; 1,287 controls	Deletion-duplication	BCL9	[10]
1q21.1	Array-CGH	119 ASD patients	Deletion-duplication		[19]
1q21.1	Affymetrix 10K SNP arrays	1,496 ASD families	Deletion-duplication		[20]
2p16.3	Affymetrix 10K SNP arrays	1,496 ASD families	Deletion-duplication	NRXN1	[20]
2p16.3	Illumina 1M-single array	996 ASD patients; 1,287 controls	Deletion-duplication	NRXN1	[10]
2p16.3	Illumina HumanHap550 BeadChip	1,336 ASD patients; 1110 controls	Deletion-duplication	NRXN1	[21]
2p16.3	Array-CGH	223 ASD patients	Deletion-duplication	NRXN1	[22]
3p26.3	Illumina 1M-single array	996 ASD patients; 1,287 controls	Deletion-duplication	CNTN4	[10]
3p26.3	Illumina HumanHap550 BeadChip	1,336 ASD patients; 1110 controls	Deletion-duplication	CNTN4	[21]
3p26.3	Array-CGH	223 ASD patients	Deletion-duplication	CNTN4	[22]
6q26	Illumina HumanHap550 BeadChip	1,336 ASD patients; 1110 controls	Deletion-duplication	PARK2	[21]
6q26	Array-CGH	223 ASD patients	Deletion-duplication	PARK2	[23]
6q26	Illumina 1M-single array	996 ASD patients; 1,287 controls	Deletion-duplication	PARK2	[10]
6q26	Affymetrix 10K SNP arrays	1,496 ASD families	Deletion-duplication	PARK2	[20]
7q11.22	Illumina HumanHap550 BeadChip	1,336 ASD patients; 1110 controls	Duplication	AUTS2	[21]
7q11.22	Illumina 1M-single array	996 ASD patients; 1,287 controls	Duplication	AUTS2	[10]
7q11.22	Array-CGH	96 ASD patients	Duplication	AUTS2	[24]
8p23.1	Array-CGH	28 ASD patients; 62 controls	Deletion	DEFENSIN (DEFA5)	[25]
15q11-q13	Array-CGH	397 ASD patients; 372 controls	Duplication	UBE3A, GABRG3, GABRB3, GABRA5	[26]
15q11-q13	Illumina 1M-single array	996 ASD patients; 1,287 controls	Duplication	UBE3A, GABRG3, GABRB3, GABRA5	[10]
15q11-q13	Illumina HumanHap550 BeadChip	1,336 ASD patients; 1110 controls	Duplication		[19]
15q11-q13	CGH	118 ASD patients; 196 controls	Duplication	UBE3A, GABRG3, GABRB3, GABRA5	[27]
15q11-q13	Affymetrix GeneChip Human Mapping 500K Array	427 ASD patients; 500 controls	Duplication	UBE3A, GABRG3, GABRB3, GABRA5	[11]
15q13.3	Illumina 1M-single array	996 ASD patients; 1,287 controls	Deletion	CHRNA7	[10]
15q13.3	Array-CGH	119 ASD patients	Deletion	CHRNA7	[19]
15q13.3	Array-CGH	223 ASD patients	Deletion	CHRNA7	[22]
16p11.2	CGH	118 ASD patients; 196 controls	Deletion-duplication	A2BP1	[27]
16p11.2	Affymetrix GeneChip Human Mapping 500K Array	427 ASD patients; 500 controls	Deletion-duplication		[11]
16p11.2	Illumina HumanHap550 BeadChip	1,336 ASD patients; 1110 controls	Deletion-duplication		[19]
16p11.2	Illumina 1M-single array	996 ASD patients; 1,287 controls	Deletion-duplication	MVP, GDPD3	[10]
16p11.2	Array-CGH	223 ASD patients	Deletion-duplication		[22]
17p11.2	Array-CGH	28 ASD patients; 62 controls	Deletion		[25]
22q11.21	Affymetrix 10K SNP arrays	1,496 ASD families	Deletion-duplication		[28]
22q11.21	Affymetrix GeneChip Human Mapping 500K Array	427 ASD patients; 500 controls	Deletion-duplication		[11]
22q11.21	Illumina HumanHap550 BeadChip	1,336 ASD patients; 1110 controls	Deletion-duplication		[21]
22q11.21	Illumina 1M-single array	996 ASD patients; 1,287 controls	Deletion-duplication	DiGeorge; Syndrome; region	[10]
22q11.21	Array-CGH	223 ASD patients	Deletion-duplication	PI4KA, SNAP29, TBX1, SLC7A4 SLC25A1, HIC2, UBE2L3, YPEL1, MAPK1	[22]
22q13.33	Affymetrix 10K SNP arrays	1,496 ASD families	Deletion-duplication	SHANK3	[20]
22q13.33	Affymetrix GeneChip Human Mapping 500K Array	427 ASD patients; 500 controls	Deletion-duplication	SHANK3	[11]
22q13.33	Illumina HumanHap550 BeadChip	1,336 ASD patients; 1110 controls	Deletion-duplication	SHANK3	[21]
22q13.33	Illumina 1M-single array	996 ASD patients; 1,287 controls	Deletion-duplication	SHANK3	[10]
22q13.33	Array-CGH	223 ASD patients	Deletion-duplication	SHANK3	[22]
22q13.33	Illumina HumanHap300 Beadchips	105 ASD patients; 267 controls	Deletion-duplication	SHANK3	[29]
Xq27.2	Illumina iSelect array	2175 ASD patients; 5801 controls	Deletion	SPANXC	[30]
Xq28	Illumina iSelect array	2175 ASD patients; 5801 controls	Deletion	MAGEA8	[30]