Table 1 Rare CNVs discovered in the paediatric obsessive compulsive disorder (EO-OCD) patients including inheritance pattern
From: High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder
Code | Gender | Diagnosis | Comorbid tics | CNV size (kb) | chromosomal location (hg19) | Genes within CNV | Inheritance | Comments |
|---|---|---|---|---|---|---|---|---|
a) Deletions carriers | ||||||||
9025014001 | female | OCD | yes | 51 | 2p16.3:51234059–51285498 | NRXN1 | de-novo | – |
9925026001 | male | OCD | no | 170 | 3p22.1:42928225–43098107 | ZNF662, KRBOX1, FAM198A | Maternal | Absent in healthy brother |
9025082001 | female | OCD | no | 113 | 4p12:46952619–47065270 | GABRA4, GABRB1 | Maternal | – |
9025015001 | male | OCD | no | 210 | 4q28.3:139075297–139285096 | SLC7A11 , LINC00499 | Maternal | – |
9025019001 | male | OCD | no | 134 | 6p25.1:6645654–6779499 | LY86 | n.a. | – |
9025107001 | female | OCD | no | 125 | 6q22.31:125494942–125619539 | TPD52L1, HDDC2 | Maternal | – |
9025079001 | male | OCD | yes | 731 | 7q21.11:83743960–84475183 | SEMA3A | Paternal | – |
9025101001 | male | OCD | no | 83 | 10p11.21:34672540–34755348 | PARD3 | Paternal | – |
9025043001 | male | OCD | yes | 310 | 12q23.1:100148198–100458394 | ANKS1B , UHRF1BP1L | de-novo | overlap to 190 kb deletion Chr12 (ANKS1B) in European paediatric OCD female [26] |
9025045001 | female | OCD | no | 297 | 15q21.3:53716860–54014105 | WDR72 | Maternal | – |
9025069001 | female | OCD | no | 105 | 15q24.2:76235495–76340932 | NRG4 | Maternal | – |
9025100001 | male | OCD | no | 1500 | 16p13.11:15509406–16516109 | C16orf45, KIAA0430, NDE1, MIR484, MYH11 , FOPNL, ABCC1 , ABCC6, NOMO3, MIR3179–1, MIR3179–3, MIR3179–2, MIR3180–1, MIR3180–3, MIR3180–2, PKD1P1 | n.a. | overlap to 783 kb duplication Chr16 (MYH11,KIAA0430,MPV17L,NDE1,FOPNL,C16orf45,NPIPA5,ABCC1) in European paediatric OCD male maternally inherited [26] |
9025040001 | female | OCD | no | 100 | 16p13.3:6294808–6394343 | RBFOX1 | Maternal | – |
9025076001 | female | OCD | no | 373 | 19q13.12:37378717–37752059 | ZNF829, ZNF568, ZNF420, ZNF585A, ZNF585B, ZNF383 | Maternal | – |
9925012001 | male | OCD | yes | 54 | 21q21.1:22856032-22910383 | NCAM2 | n.a. | – |
9925015001 | male | OCD | no | 279 | Xq11.2:63540728–63819338 | MTMR8 | Maternal | Brother (Anxiety) carrier of CNV as well; Mother (Anxiety) |
9025093001 | male | OCD | no | 101 | Xq27.3:142869149-142970485 | UBE2NL | Maternal | – |
b) Duplication carriers | ||||||||
9025030001 | male | OCD | no | 166 | 1p21.2:101039885–101205680 | VCAM1 | n.a. | – |
9025106001 | female | OCD | no | 487 | 1p31.1:74037092–74524344 | LRRIQ3 | n.a. | – |
9025016001 | male | OCD | no | 147 | 1p36.12:22984535–23131772 | C1QB, EPHB2 | Maternal | – |
9025094004 | male | OCD | yes | 437 | 1q21.1:145372549–145809279 | NBPF10, HFE2 , TXNIP, POLR3GL, ANKRD34A, LIX1L, RBM8A, GNRHR2, PEX11B, ITGA10, ANKRD35, PIAS3 , NUDT17, POLR3C, RNF115, CD160, PDZK1, GPR89A, GPR89C | Maternal | Sister (sub-threshold OCD) carrier of CNV as well; Mother (sub-threshold OCD); overlap to; (1) 1799 kb duplication Chr1 (ACP6,PRKAB2,CHD1L,LOC100288142,FMO5,GJA8,NBPF24,NBPF8,BCL9,NBPF12,NBPF11,NBPF10,GPR89B,GPR89C,GJA5) in European paediatric OCD male maternally inherited. (2) 170 kb duplication Chr1 (CD160,RNF115,POLR3C,GPR89A,PDZK1) in European paediatric OCD female, and (3) 165 kb duplication Chr1 (CD160,RNF115,GPR89A,PDZK1) in European paediatric OCD female, [26] |
9925022001 | female | OCD | no | 1380 | 3p14.2: 60835192–62214802 | FHIT , PTPRG | n.a. | – |
9025027001 | male | OCD | no | 278 | 3p25.2:12374585-12652539 | PPARG, TSEN2, LOC100129480, MKRN2, RAF1 | Paternal | – |
9025029001 | female | OCD | no | 58 | 4q13.3:72291016–72349103 | SLC4A4 | n.a. | – |
9025013001 | female | OCD | no | 67 | 4q35.1:186023710–186090501 | SLC25A4, KIAA1430 | n.a. | – |
9025091001 | male | OCD | no | 484 | 6p21.31:34446474–34930648 | PACSIN1 , SPDEF, C6orf106, SNRPC, UHRF1BP1, TAF11, ANKS1A | Paternal | – |
9925001001 | male | OCD | no | 300, 162 & 79 | 6q14.1:76417785–76718017 76774410–76935941(two) & 17p13.2: 4309542–4388334 | SENP6, MYO6 , IMPG1, SPNS3 | Paternal | Father CNV on Chr6q14:1; overlap to 73 kb duplication Chr17 (SPNS3) in non-European paediatric OCD male [26] |
9025089001 | male | OCD | no | 246 | 7q11.23:72576872–72822709 | LOC100093631, GTF2IP1, NCF1B, GTF2IRD2P1, NSUN5, TRIM50, FKBP6 | Paternal | – |
9925007001 | female | OCD | yes | 258 | 7q31.33:125882371–126140769 | GRM8 | Paternal | Absent in sister (OCD) |
9025036001 | female | OCD | no | 89 | 7q36.1:149318934–149408392 | ZNF767 | n.a. | – |
9025049001 | male | OCD | no | 153 | 7q36.3:157134943–157287531 | DNAJB6, LGMD1E | Paternal | – |
9025077001 | male | OCD | yes | 158 | 9p13.3:33989242–34146776 | UBAP2, DCAF12 | Maternal | – |
9025020001 | female | OCD | no | 52 | 9q34.13:134065786–134117305 | NUP214 | n.a. | – |
9025067001 | female | OCD | no | 134 | 10p15.3:143252–277232 | ZMYND11 | n.a. | – |
9925035001 | male | OCD | no | 131 | 11q12.1:58547531–58678042 | GLYATL2 | n.a. | – |
9025073001 | female | OCD | no | 82 | 13q14.11:40310481–40392725 | COG6 | Paternal | – |
9925030001 | male | OCD | yes | 109 | 13q34:110917586–111026140 | COL4A1, COL4A2 | Maternal | Absent in healthy sister |
9925021001 | female | OCD | no | 176 | 14q21.1:42004775–42180366 | LRFN5 | Maternal | – |
9025112001 | male | OCD | no | 100 | 14q23.1:58476607–58576320 | C14orf37 | n.a. | – |
9025082001 | female | OCD | no | 66 | 18p11.32:2825037–2890695 | EMILIN2 | not maternal | Mother has only the deletion CNV; father not available |
9025043001 | male | OCD | yes | 80 | 19p13.11:19749997–19830351 | GMIP, ATP13A1, ZNF101, ZNF14 | de-novo | – |
9925027001 | male | OCD | yes | 50 | 19q13.2:39113548–39163701 | EIF3K, ACTN4 | Maternal | – |
9025040001 | female | OCD | no | 73 | 20q12:37604490–37677926 | DHX35 | not maternal | Mother has only the deletion CNV; father not available |
9025078001 | female | OCD | no | 313 | Xp11.3:44750716–45063967 | KDM6A, CXorf36 | Paternal | – |