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Table 1 Array results of patients with ASD having pathogenic and likely pathogenic CNVs. Genomic coordinates were listed in human assembly GRCh37/hg19. Genes in bold represent the OMIM genes. Data set is available from the ArrayExpress repository, accession numbers E-MTAB-5672 and E-MTAB-5665

From: Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10

Patient no. Lab no. Sex/age CNV Size/CNV Representative gene(s) within the CNV Classification Inheritance Clinical features
1 A0572B M/4 years arr[GRCh37] 7q31.1(110978196_111337169)x1 0.36 Mb deletion IMMP2L VUS Paternally inherited High-functioning ASD
arr[GRCh37] 15q25.2q26.1(84642246_91626219)x1 6.98 Mb deletion ADAMTSL3, UBE2Q2L, GOLGA6L4, ZSCAN2, WDR73, NMB, SEC11A, ZNF592, ALPK3, SLC28A1, PDE8A, GOLGA6L3, AKAP13, KLHL25, AGBL1, NTRK3, MRPL46, MRPS11, DET1, AEN, ISG20, ACAN, HAPLN3, MFGE8, ABHD2, RLBP1, FANCI, POLG, RHCG, TICRR, KIF7, PLIN1, PEX11A, WDR93, MESP1, MESP2, ANPEP, C15orf38, AP3S2, ARPIN, ZNF710, IDH2, SEMA4B, CIB1, GDPGP1, NGRN, ZNF774, IQGAP1, CRTC3, BLM, FURIN, FES, MAN2A2, UNC45A, HDDC3, RCCD1, PRC1, VPS33B Pathogenic De novo
2 AGG0013 M/18 months arr[GRCh37] 16p11.2(28488491_29046284)x1 0.56 Mb deletion CLN3, APOBR, IL27, NUPR1, SGF29, SULT1A2, SULT1A1, NPIPB8, EIF3C, EIF3CL, NPIP89, ATXN2L, TUFM, SH2B1, ATP2A1, RABEP2, CD19, NFATC21P, SPNS1, LAT Pathogenic De novo GDD, ASD
3 AGG0207 F/32 months arr[GRCh37] Xp22.33(296519_4021220)x1 3.72 Mb deletion PPP2R3B, SHOX, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL, P2RY8, AKAP17A, ASMT, DHRSX, ZBED1, CD99, XG, GYG2, ARSD, ARSE, ARSH, ARSF, MXRA5, PRKX Pathogenic Not maternally inherited Short stature, GDD, ASD
4 AGG0238 M/29 months arr(X)x2,(Y)x1 XXY (Klinefelter syndrome) Pathogenic De novo Developmental language delay, ASD with ADHD features
5 AGG0318 F/26 months arr[GRCh37] 1q44(246807340_249208105)x1 2.40 Mb deletion CNST, SCCPDH, AHCTF1, ZNF695, ZNF670, ZNF669, C1orf229, ZNF124, VN1R5, ZNF496, NLRP3, GCSAML, TRIM58, LYPD8, SH3BP5L, ZNF672, ZNF692, PGBD2 Pathogenic Inheritance not known; unbalanced translocation t(1;8) ASD
arr[GRCh37] 8q24.22q24.3(135567463_146304022)x3 10.76 Mb duplication ZFAT, KHDRBS3, FAM135B, COL22A1, KCNK9, TRAPPC9, CHRAC1, AGO2, PTK2, DENND3, SLC45A4, GPR20, PTP4A3, MROH5, TSNARE1, ADGRB1, ARC, JRK, PSCA, LY6K, THEM6, SLURP1, LYPD2, LYNX1, LY6D, GML, CYP11B1, CYP11B2, LY6E, C8orf31, LY6H, GPIHBP1, ZFP41, GLI4, ZNF696, TOP1MT, RHPN1, MAFA, ZC3H3, GSDMD, MROH6, NAPRT, EEF1D, TIGD5, PYCRL, TSTA3, ZNF623, ZNF707, CCDC166, MAPK15, FAM83H, SCRIB, PUF60, NRBP2, EPPK1, PLEC, PARP10, GRINA, SPATC1, OPLAH, EXOSC4, GPAA1, CYC1, SHARPIN, MAF1, WDR97, HGH1, BOP1, SCX, HSF1, DGAT1, SCRT1, TMEM249, FBXL6, SLC52A2, ADCK5, CPSF1, SLC39A4, VPS28, TONSL, CYHR1, KIFC2, FOXH1, PPP1R16A, GPT, MFSD3, RECQL4, LRRC14, LRRC24, C8orf82, ARHGAP39, ZNF251, ZNF34, RPL8, ZNF517, ZNF7, COMMD5, ZNF250, ZNF16, C8orf33 Pathogenic
6 AGG0126 M/29 months arr[GRCh37] 6q26(162621987_163095834)x3 0.47 Mb duplication PARK2 likely pathogenic De novo Speech delay; ASD; Hypospadias
7 AGG0128 M/23 months arr[GRCh37] 16p13.11(15125758_16287903)x3 1.16 Mb duplication PDXDC1, NTAN1, RRN3, MPV17L, C16orf45, KIAA0430, NDE1, MYH11, FOPNL, ABCC1, ABCC6 Pathogenic Maternally inherited ASD
8 AGG0228 M/17 years arr[GRCh37] 16p13.11(15125758_16287903)x3 1.16 Mb duplication PDXDC1, NTAN1, RRN3, MPV17L, C16orf45, KIAA0430, NDE1, MYH11, FOPNL, ABCC1, ABCC6 Pathogenic Inheritance not known Epilepsy; GDD; ASD
9 AGG0437 M/29 months arr[GRCh37] 11p11.2(48103669_48388756)x2~3 0.29 Mb duplication (mosaic) PTPRJ, OR4B1, OR4X2, OR4ZX1, OR4S1, OR4C3, OR4C45 Pathogenic Inheritance not known ASD
arr[GRCh37] 11q12.1q12.2(55896790_61443324)x2~3 5.55 Mb duplication (mosaic) LRRC55, APLNR, TNKS1BP1, SSRP1, P2RX3, PRG3, PRG2, SLC43A3, RTN4RL2, SLC43A1, TIMM10, SMTNL1, UBE2L6, SERPING1, TPEL4, CLP1, ZDHHC5, MED19, TMX2 . C11orf31, BTBD18, CTNND1, LPXN, ZFP91, CNTF, GLYAT, GLYATL2, AK294973, GLYALT1, FAM111B, FAM111A, DTX4, MPEG1, OSBP, PATL1, STX3, MRPL16, GIF, TCN1, AB231702, PLAC1L, CCDC86, PTGDR2, ZP1 , PRPF19, TMEM109, TMEM132A, SLC15A3, CD6, VPS37C, PGA3, PGA4, PGA5, VWCE, DDB1, TKFC, CYB561A3, TMEM138, TMEM216, CPSF7, SDHAF2, PPP1R32, LRRC10B, ZYT7 Pathogenic Inheritance not known