Table 3 Pathogenic CNVs found in the ASD Cohort. Includes ASD cases of the cohort previously published33.
Case | PCNV | Microarray nomenclature | Size (Kbp) | No. of genes | Some of the relevant genes | Phenotype | Gender/other info | Inheritance | Karyotype | Syndrome |
|---|---|---|---|---|---|---|---|---|---|---|
#15 | Del | arr[hg19] 16p11.2(28,689,085–29,043,863)x1 | 355 | 18 | SH2B1 | DD, ASD | M/affected brother (#16) | ND | Distal 16p11.2 deletion syndrome | |
#16 | Del | arr[hg19] 16p11.2(28,689,085–29,388,495)x1 | 362 | 18 | SH2B1 | DD, ASD | M/affected brother (#15) | ND | Distal 16p11.2 deletion syndrome | |
#52 | Del | arr[hg19] 22q13.33(50,788,193–51,115,526)x1 | 327 | 18 | SHANK3 | SevID, ASD, motor difficulties, FD, CAs and epilepsy | M/ | ND | Phelan-McDermid syndrome | |
#66 | Dup | arr[hg19] 15q25.1q26.3(80,304,866–102,429,040)x3 | 22,124 | 175 | IGFR1, AKAP13, CPEB1, NTRK3, WDR73 | SevID, ASD, convulsions, SLD, hyperactivity, CAs (one kidney) and FD | M/– | ND | – | |
#69 | Del | arr[hg19] 16p12.2p11.2(21,405,327–29,388,495)x1 | 7983 | 82 | SH2B1 | MildID, ASD, SLD, hyperactivity and FD | M/– | ND | – | |
#70 | Dup | arr[hg19] 7q11.23(72,732,834–74,155,067)x3 | 1422 | 27 | WBSCR27, WBSCR28 | ModID, ASD and hyperactivity | M/– | ND | Williams-Beuren region duplication syndrome | |
#76 | Dup | arr[hg19] 7q11.23(72,556,215–74,245,599)x3 | 1689 | 34 | WBSCR27, WBSCR28 | MildID, ASD | M/ - | ND | Williams-Beuren region duplication syndrome | |
#77 | Del | arr[hg19] 15q13.2q13.3(31,073,735–32,446,830)x1 | 1373 | 9 | CHNA7 | MildID, ASD and hyperactivity | M/– | ND | – | |
#148 | Dup | arr[hg19] Xp22.3q28(1–247,249,719)x3 ou arr(X)x3 | 155,270 | – | – | DD, ASD and schizophrenia | F/– | ND | Triple X syndrome | |
#184 | Del | arr[hg19] 15q11.2q13.1(22,770,421–28,823,722)x1 | 6053 | 121 | UBE3A, SNRPN | DD, ID, epilepsy, ASD and ADHD | M/– | ND | Angelman syndrome | |
#235 | Dup | arr[hg19] 17p11.2(16,591,260–20,473,937)x3 | 3882 | 68 | RAI | Slender build, DD, SLD, ModID, ASD and FD | F/– | ND | Potocki-Lupski syndrome | |
#255 | Dup | arr[hg19] 22q11.21q11.23(18,493,187–24,313,652)x3 | 5820 | 125 | TBX1 | DD, ASD and FD | M/– | ND | 22q11.21 Duplication Syndrome | |
#345 | Del | arr[hg19] 14q32.2q32.31(100,095,248–102,755,064)x1 | 2660 | 117 | PEGS (DLK1 and RTL1), MEGS (MEG3 and MEG8) | Low weight, short stature, prematurity, IUGR, ataxia, scoliosis, DD, SLD, SevID, ASD, FD and early puberty | F/– | ND | Temple Syndrome | |
#385 | Del | arr[hg19] 21q22.12q22.2(35,834,713–39,831,660)x1 | 3997 | 32 | DYRK1A | Convulsions, DD, ID, SevID, ASD, cardiomyopathy, CAs (abnormal external genitalia) and thrombocytopenia | M/– | ND | 21q22.12 Microdeletion Syndrome | |
#416 | Del | arr[hg19] 18q21.32q23(58,921,746–78,013,728)x1 | 19,092 | 75 | PIGN | Obesity, CASs, DD, ID, deafness, ASD, FD, and thrombocytopenia | M/– | ND | 18 q21.32-qter deletion syndrome | |
#443 | Dup | arr[hg19] 22q12.3q13.1(35,888,588–38,692,765)x4 | 2804 | 59 | 45 OMIMs | Low weight, short stature, DD, SLD, ASD, behavioral disorder DF and mongolian spots | M/– | ND | – | |
#455 | Dup | arr[hg19] Yp11.31p11.2-Yq11.23(2,650,140–28,799,937)x2 | 26,149 | 486 | 39 OMIMs | ASD and tall stature | M/– | ND | 47, XY, + mar | XYY-region syndrome |
#470 | Del | arr[hg19] 2q37.3(238,092,121–242,782,258)x1 | 4690 | 73 | HDAC4 | Asperger's syndrome | F/– | ND | 2q37.3 microdeletion syndrome | |
#511 | Dup | arr[hg19] 2q11.2(99,222,915–101,919,539)x3 | 2696 | 29 | 13 OMIMs | ASD, ID, tall stature, CAs and FD | M/1 of 2 pCNVs | ND | 47,XY + mar(64%)/48,XY, + + mar(6%) | – |
#511 | Dup | arr[hg19] 2q11.1q11.2(95,327,873–98,719,140)x4 | 3391 | 52 | 24 OMIMs | ASD, ID, tall stature, CAs and FD | M//1 of 2 pCNVs | ND | 47,XY + mar(64%)/48,XY, + + mar(6%) | – |
#586 | Del | arr[hg19] 15q21.3(57,289,688–57,510,425)x1 | 221 | 1 | TCF12 | ASD, hyperactivity and FD (Asymmetric facies) | M/- | ND | – | |
#594 | Dup | arr[hg19] 1q32.3q41-1q43q44(212,011,806–249,181,598)x3 | 36,743 | 581 | 169 OMIMs | ASD, ID, CAs and FD | F/1 of 2 pCNVs | ND | 46,XX, add(22)(q13) | 1q32.3-qterm trisomy |
#594 | Del | arr[hg19] 22q13.31q13.33(47,771,299–51,197,766)x1 | 3426 | 49 | 29 OMIMs | ASD, ID, CAs and FD | F/1 of 2 pCNVs | ND | 46,XX, add(22)(q13) | Phelan-Mcdermid syndrome |
#667 | Del | arr[hg19] 18q12.3(42,453,211–42,988,420)x1 | 535 | 3 | SETBP1 ,SLC14A2 | ASD | M/– | ND | Intellectual developmental disorder, autosomal dominant 29 | |
#714 | Del | arr[hg19] 16p11.2(29,591,326–30,190,029)x1 | 598 | 31 | 20 OMIMs | Asperger's syndrome | M/– | ND | Chromosome 16p.11.2 deletion syndrome | |
#737 | Dup | arr[hg19] 16p13.3p12.3(85,880–18,242,713)x3 | 18,156 | 342 | CREBBP | ASD, FD and CAs | F/1 of 2 pCNVs | ND | Partial trisomy 16p13.3 syndrome | |
#737 | Del | arr[hg19] Xq27.3q28(145,443,311–155,233,098)x1 | 9723 | 167 | FMR1, AFF2 | ASD, FD and CAs | F/1 of 2 pCNVs | ND | – | |
#751 | Del | arr[hg19] 18q12.2q21.1(36,210,635–44,530,609)x1 | 8319 | 28 | SETBP1 | ASD, FD and CAs | M/- | ND | 18q deletion syndrome | |
#791 | Del | arr[hg19] 14q12(29,197,241–29,514,397)x1 | 317 | 4 | FOXG1 | ASD, DD, SLD, FD, CAs and seizures | F/– | ND | FOXG1 syndrome | |
#809 | Dup | arr[hg19] Xq28(153,123,879–153,621,056)x2 | 497 | 21 | MECP2 | ASD and CAs | M/– | ND | MECP2 duplication syndrome | |
#853 | Del | arr[hg19] 16p11.2(29,591,326–30,176,508)x1 | 585 | 31 | 20 OMIMs | ASD, SLD, FD, dyslalias and motor difficulties | M/– | ND | Chromosome 16p.11.2 deletion syndrome | |
#873 | Del | arr[hg19] 13q33.2q34(105,020,842–115,107,733)x1 | 10,086 | 86 | EFNB2, LIG4, SOX1 | ASD, ID, CAs, FD and microcephaly | F/– | ND | Distal 13q deletion syndrome | |
#913 | Dup | arr[hg19] 15q24.1q24.2(72,899,646–75,567,198)x3 | 2667 | 52 | 32 OMIMs | ASD, FD and CAs | M/– | ND | – | |
#970 | Dup | arr[hg19] 1q21.1q21.2(146,106,723–147,830,830)x3 | 1724 | 56 | SATB2 | ASD | F/- | ND | 1q21.1 microduplication syndrome | |
#1026 | Dup | arr[hg19] 2q33.1(200,182,545–201,185,809)x3 | 1003 | 8 | SATB2 | ASD, ID and DF | M/ potencial UPD: 22q13.1q13.33 (13.2 Mbp; 37,977,281–51,157,531) | ND | – | |
#1050 | Del | arr[hg19] 9p24.3p24.1(208,454–5,222,238)x1 | 5013 | 27 | DMRT1, DMRT2, DMRT3 | ASD, ID, pectus excavatum and FD | M/– | ND | – | |
#1100 | Del | arr[hg19] 15q13.2q13.3(31,098,690–32,444,261)x1 | 1346 | 18 | CHRNA7 | Asperger's syndrome | F/– | ND | 15q13.3 microdeletion syndrome | |
#1107 | Del | arr[hg19] 9p24.3p22.3(208,454–15,424,987)x1 | 15,216 | 137 | NFIB, FREM1 | ASD | M/– | ND | 46, XY, del(9)(~ p22.2-pter) | 9p deletion syndrome |
