Table 2.
List of NDD‐CNVs identified in the present study
| Sample ID | Diagnosis | CNV regions (hg18) | CNV size (kb) | NDD‐CNVs |
|---|---|---|---|---|
| Case 1 | AN‐R | chrX:239315–154882257 | 154643 | 45,X |
| Case 2 | AN‐BP | chr18:42803418–42850905 | 47 | KATNAL2 del |
| Case 3 | AN‐BP | chr20:40713672–40755445 | 42 | PTPRT del |
| Case 3 | AN‐BP | chr21:46792833–46944323 | 151 | DIP2A del |
| Case 4 | AN‐BP | chr16:6729807–6874172 | 144 | RBFOX1 del |
| Case 5 | AN‐R | chr3:2249529–2272390 | 23 | CNTN4 del |
| Case 6 | ARFID | chr20:14512172–14984703 | 473 | MACROD2 del |
| Case 7 | AN‐R | chr16:83647246–83797767 | 151 | FAM92B del |
| Control 1 | CONT | chr16:74896665–74925155 | 28 | CNTNAP4 dup |
| Control 2 | CONT | chr2:50871072–51045009 | 174 | NRXN1 del |
| Control 3 | CONT | chr22:38823826–38885747 | 62 | TNRC6B del |
| Control 4 | CONT | chr15:23478243–23561947 | 84 | ATP10A dup |
| Control 5 | CONT | chrX:31663373–31824111 | 161 | DMD del |
| Control 6 | CONT | chr11:98640950–98771710 | 131 | CNTN5 dup |
| Control 7 | CONT | chr15:20194004–20751393 | 557 | 15q11.2 (NIPA1) del |
| Control 8 | CONT | chr16:15031188–16701937 | 1671 | 16p13.11 (NDE1, MYH11) dup |
| Control 9 | CONT | chr22:49223470–49285901 | 62 | SBF1 del |
| Control 10 | CONT | chr11:99236699–99319332 | 83 | CNTN5 del |
| Control 11 | CONT | chr4:92011820–92091768 | 80 | CCSER1 dup |
| Control 12 | CONT | chr15:28585517–30241239 | 1656 | 15q13.3 (CHRNA7, FAN1) dup |
| Control 13 | CONT | chr11:99086434–105672141 | 6586 | 11q22.1‐q22.3 (CNTN5, TRPC6) del |
| Control 14 | CONT | chr5:11422713–11441999 | 19 | CTNND2 del |
| Control 15 | CONT | chr6:167194010–167252680 | 59 | RPS6KA2 del |
| Control 16 | CONT | chr22:17271966–19961412 | 2689 | 22q11.21 (velocardiofacial syndrome region) dup |
| Control 17 | CONT | chr16:21753133–22445650 | 693 | 16p12.1 (EEF2K, CDR2) del |
| Control 18 | CONT | chr20:14905262–15154939 | 250 | MACROD2 del |
| Control 19 | CONT | chr11:99319332–99414236 | 95 | CNTN5 dup |
| Control 20 | CONT | chr10:56120554–56328279 | 208 | PCDH15 del |
| Control 21 | CONT | chr15:20194004–20987146 | 793 | 15q11.2 (NIPA1) del |
| Control 22 | CONT | chrX:6571854–7935080 | 1363 | Xp22.31 (X‐linked ichthyosis region, STS) del |
| Control 23 | CONT | chr9:119081759–119111496 | 30 | ASTN2 dup |
| Control 24 | CONT | chr1:53259586–53292991 | 33 | SCP2 del |
Abbreviations: AN‐BP, anorexia nervosa binge‐eating/purging type; AN‐R, anorexia nervosa restrictive type; ARFID, avoidant/restrictive food intake disorder; CONT, control; del, deletion; dup, duplication; NDD, neurodevelopmental disorder.