TABLE 2.
Overview of the CNVs found in the patients.
| Patient ID | Gender | CNV coordinates (hg19) | Minimal region (Kb) | del/dup | Inh | Total genes (RefSeqAll) | Candidate genes |
|---|---|---|---|---|---|---|---|
| IGGAC13 | M | 7:146464283-146532437 | 68 | del | mat | 1 | CNTNAP2 |
| 11:40303114-40694847 | 392 | del | pat | 1 | LRRC4C | ||
| IGGAC14 | M | 17:76419867-76548866 | 129 | del | pat | 3 | DNAH17 |
| X:561527-908212 | 347 | dup | mat | 1 | SHOX | ||
| IGGAC15a | M | 15:22765628-23208901 | 443 | del | mat | 6 | NIPA1,CYFIP1,TUBGCP5,NIPA2 |
| 6:33337684-33669083 | 331 | dup | de novo | 13 | SYNGAP1 | ||
| IGGAC16a | F | 15:22765628-23208901 | 443 | del | mat | 6 | NIPA1,CYFIP1,TUBGCP5,NIPA2 |
| 6:33337684-33669083 | 331 | dup | de novo | 13 | SYNGAP1 | ||
| 16:6371455-6568176 | 197 | del | pat | 1 | RBFOX1 | ||
| IGGAC07 | M | 12:108487109-108896252 | 409 | dup | mat | 3 | WSCD2 |
| 14:22360671-23120435 | 760 | dup | de novo | 5 | ABHD4 | ||
| 22:22998284-23643223 | 645 | dup | mat | 8 | GNAZ | ||
| IGGAC10 | M | 3:123113523-123997093 | 884 | dup | pat | 9 | ADCY5 |
| 6:86338564-86413285 | 75 | del | mat | 4 | SYNCRIP | ||
| IGGAC06 | M | 9:10286927-11086155 | 799 | del | mat | 2 | PTPRD |
| 11:116182875-116677043 | 494 | del | not mat | 4 | BUD13 | ||
| IGGAC08 | M | 4:175734964-175934265 | 199 | del | mat | 3 | GLRA3 |
| 6:140767462-141008265 | 241 | del | de novo | 1 | MIR4465 | ||
| 10:134289353-134917702 | 628 | dup | de novo | 9 | INPP5A | ||
| IGGAC04 | M | 5:88232587-90181774 | 1,949 | del | de novo | 9 | MEF2C-AS1 and ADGVR1 |
| IGGAC01 | F | 16:8969984-10078802 | 1,109 | dup | de novo | 6 | USP7 and GRIN2A |
| IGGAC24 | M | 19:55948706-56471996 | 523 | dup | de novo | 24 | SHISA7 |
| IGGAC23 | M | 10:125121038-127119447 | 1,998 | dup | de novo | 13 | CTBP2 |
a
Brother and sister.