Table 5.
Case-unique CNVs in ASD candidate genes
| Position (hg 18) | Cytoband | Genes | CNV type | Inheritance | Family | Affected siblings with CNVa | Unaffected siblings with CNVb |
|---|---|---|---|---|---|---|---|
| Chr2:184744259–186437079 | 2q32.1 | FLJ44048,FSIP2,ZNF804A | Duplication | Paternal | 7678 | 2/2 | 0/0 |
| chr2:119642873–119882278 | 2q14.2 | C2orf76,DBI,STEAP3 | Duplication | De novo | 17113 | 1/1 | 0/0 |
| chr2:230078358–230181261 | 2q36.3 | DNER | Duplication | Paternal | 17171 | 1/1 | 0/1 |
| chr3:10823410–10943172 | 3p25.3 | SLC6A11 | Deletion | Paternal | 7804 | 2/2 | 0/0 |
| chr6:101260386–102979782 | 6q16.3 | ASCC3,GRIK2 | Deletion | Maternal | 17182 | 2/2 | 0/0 |
| chr7:51155279–51263037 | 7p12.1 | COBL | Deletion | Maternal | 39391 | 1/1 | 1/3c |
| chr10:87754758–87839034 | 10q23.1 | GRID1 | Deletion | Paternal | 37276 | 1/1 | 1/1 |
| chr11:118685526–121040148 | 11q23.3–q24.1 | ARHGEF12,C1QTNF5,GRIK4,MCAM, MFRP,OAF,POU2F3,PVRL1,RNF26, SC5DL,SORL1,TBCEL,TECTATHY1, TMEM136, TRIM29,USP2 | Duplication | De novo | 37341 | 1/1 | 0/1 |
| chr12:10248041–10332152 | 12p13.2 | GABARAPL1 | Deletion | Paternal | 37240 | 1/1 | 1/1 |
| chr12:13753741–13788728 | 12p13.1 | GRIN2B | Deletion | Maternal | 7614 | 1/1 | 0/0 |
| chr14:78373505–78506223 | 14q24.3–q31.1 | NRXN3 | Deletion | Maternal | 7484 | 1/1 | 1/2 |
| chr15:26849239–28157206 | 15q13.1–q13.2 | APBA2,KIAA0574,NDNL2,TJP1 | Deletion | Maternal | 17630 | 2/2 | 0/1 |
| Maternal | 7486 | 1/1 | 0/2 | ||||
| chr16:6866262–7042998 | 16p13.2 | A2BP1 | Deletion | Paternal | 7636 | 2/2 | 0/0 |
| Paternal | 7851 | 1/1 | 0/0 | ||||
| Paternal | 17855 | 1/1 | 1/1 | ||||
| Maternal | 37350 | 1/1 | 1/1d | ||||
| chr22:31499975–31930759 | 22q12.3 | SYN3,TIMP3 | Duplication | Paternal | 39377 | 1/1 | 0/0 |
| chrX:146676441–146930522 | Xq27.3–q28 | ASFMR1,FMR1,FMR1NB | Deletion | Maternal | 18072 | 2/2 | 0/0 |
aNumber of affected siblings in the family with the CNV/total affected siblings.
bNumber of unaffected siblings in the family with the CNV/total unaffected siblings.
cUnaffected with CNV has speech delay.
dUnaffected with CNV has a questionable autism diagnosis.