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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
  1. Abbreviation: n.a. not available, −-, not applicable, Underlines, proband carrying both deletions and duplications; Bold, brain/synapse related genes according to gene ontology, PubMed & GEO; Cursive, patients’ codes that were analysed in the previous publication for CNVs larger than 500 kb [24]; Patient # 90–25–079-001, with deletion on 7q21.11:83,743,960–84,475,183(hg19) of 731 kb /previously reported as 7q21.11:83,580,426–84,291,036(hg18) 711 kb [24]. For further details, as well as for control sample findings (e.g. CYBOCA, comorbidities etc.), see Additional file 2: Table S2a & b