Table 1.
Likely pathogenic CNVs identified in the 82 participants with obesity and/or neurological disorder.
| Patient | Sex* | Chr | Start | End | Size | Probes | Type | Parental origin** | Gene | Phenotype | Ref |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32,996 | F | 16 | 29,568,896 | 30,206,106 | 637.21 | 215 | Gain | M | SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, BOLA2, BOLA2B, SLX1A, SLX1B, SULT1A4, SULT1A3 | Intellectual disability [psychomotor retardation, language delay], short stature, thinness, dysmorphic feature | [25] |
| 36,504 | F | 5 | 41,442 | 31,162,895 | 30,743.13 | 3989 | Gain | Unk | PLEKHG4B, LRRC14B, CCDC127, SDHA, PDCD6, AHRR, EXOC3, SLC9A3, CEP72, TPPP, ZDHHC11B, ZDHHC11, BRD9, TRIP13, NKD2, SLC12A7, SLC6A19, SLC6A18, TERT, CLPTM1L, SLC6A3, LPCAT1, MRPL36, NDUFS6, IRX4, IRX2, C5orf38, IRX1, ADAMTS16, ICE1, MED10, UBE2QL1, NSUN2, SRD5A1, PAPD7, ADCY2, C5orf49, FASTKD3, MTRR, SEMA5A, TAS2R1, FAM173B, CCT5, CMBL, MARCH6, ROPN1L, ANKRD33B, DAP, CTNND2, DNAH5, TRIO, FAM105A, OTULIN, ANKH, FBXL7, MARCH11, ZNF622, RETREG1, MYO10, BASP1, H3.Y, CDH18, CDH10, CDH12, CDH9, PRDM9 | Intellectual disability | [26] |
| 36,981 | F | 15 | 98,507,942 | 101,861,073 | 3353.13 | 513 | Loss | Unk | FAM169B, IGF1R, PGPEP1L, SYNM, TTC23, LRRC28, MEF2A, LYSMD4, ADAMTS17, CERS3, LINS1, ASB7, ALDH1A3, LRRK1, CHSY1, SELENOS, SNRPA1, PCSK6, TM2D3, TARSL2, LOC100128108, OR4F6, OR4F15 | Intellectual disability [psychomotor retardation], failure to thrive, short stature, thinness, microcephaly, dysmorphic feature | [27] |
| 38,213 | F | 20 | 59,032,190 | 64,329,015 | 5296.83 | 1180 | Gain | Unk | ATP5F1E, PRELID3B, ZNF831, EDN3, PHACTR3, SYCP2, FAM217B, PPP1R3D, FAM217B, CDH26, C20orf197, CDH4, TAF4, LSM14B, PSMA7, SS18L1, MTG2, HRH3, OSBPL2, ADRM1, LAMA5, RPS21, CABLES2, RBBP8NL, GATA5, MIR1-1HG, SLCO4A1, NTSR1, MRGBP, OGFR, COL9A3, TCFL5, DPH3P1, DIDO1, GID8, SLC17A9, BHLHE23, YTHDF1, BIRC7, NKAIN4, ARFGAP1, COL20A1, CHRNA4, KCNQ2, EEF1A2, PPDPF, PTK6, SRMS, FNDC11, HELZ2, GMEB2, STMN3, RTEL1, TNFRSF6B, ARFRP1, ZGPAT, LIME1, SLC2A4RG, ZBTB46, ABHD16B, TPD52L2, DNAJC5, UCKL1, ZNF512B, SAMD10, PRPF6, C20orf204, SOX18, TCEA2, RGS19, OPRL1, LKAAEAR1, OPRL1, NPBWR2, MYT1, PCMTD2 | Intellectual disability [psychomotor retardation, spatial disorientation], aggressive behavior, short stature | [31] |
| 38,645 | M | 16 | 28,811,431 | 29,052,826 | 241.4 | 136 | Loss | Unk | ATXN2L, TUFM, SH2B1, ATP2A1, RABEP2, CD19, NFATC2IP, SPNS1, LAT | Intellectual disability [psychomotor retardation, language delay] | [4] |
| 38,839 | M | X | 53,231,708 | 53,878,306 | 646.6 | 185 | Gain | Unk | IQSEC2, SMC1A, RIBC1, HSD17B10, HUWE1 | Intellectual disability [psychomotor retardation], neonatal hypotonia, thinness | [28] |
| 39,409 | F | 7 | 73,316,540 | 74,798,284 | 1481.74 | 339 | Gain | D | TRIM50, FKBP6, FZD9, BAZ1B, BCL7B, TBL2, MLXIPL, VPS37D, DNAJC30, BUD23, STX1A, ABHD11, CLDN3, CLDN4, METTL27, TMEM270, ELN, LIMK1, EIF4H, LAT2, RFC2, CLIP2, GTF2IRD1, GTF2I, NCF1, GTF2IRD2 | Intellectual disability [psychomotor retardation, language delay], behavioral disorder | [29] |
| 39,509 | M | 15 | 31,739,875 | 32,243,158 | 503.28 | 58 | Gain | F | OTUD7A, CHRNA7 | Intellectual disability [language delay], seizures | [30] |
| 39,638 | F | 15 | 31,729,880 | 32,225,059 | 495.18 | 60 | Gain | Unk | OTUD7A, CHRNA7 | Intellectual disability | [30] |
| OSV20 | M | 16 | 29,572,106 | 30,188,122 | 616.02 | 211 | Loss | F | SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A | Intellectual disability [language delay], obesity | [3] |
| OSV21 | F | 16 | 29,642,461 | 30,194,811 | 552.35 | 203 | Loss | F | SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, BOLA2, BOLA2B, SLX1A, SLX1B | Intellectual disability [language delay], obesity | [3] |
| OSV46 | F | 16 | 28,811,431 | 29,052,826 | 241.4 | 136 | Loss | Unk | ATXN2L, TUFM, SH2B1, ATP2A1, RABEP2, CD19, NFATC2IP, SPNS1, LAT | Seizures, behavioral disorder, hypermetropia, obesity, dysmorphic feature | [4] |
| U2 | F | 16 | 29,590,876 | 30,188,122 | 597.25 | 209 | Loss | Unk | SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A | Intellectual disability [psychomotor retardation], severe obesity | [3] |
All genomic coordinates are based on the hg38 reference sequence.
Chr, Chromosome; D, de novo; F*, female; F**, father; M*, male; M**, mother; Ref, reference; Unk, unknown.