Table 1: Demographic characteristics for all participants in the study.
CNV chromosomal coordinates are provided in megabase (Mb) with the number of genes encompassed in each CNV and a well-known gene for each locus, to help recognize the CNV. Clinically ascertained participants come from five cohorts and non-clinically ascertained participants are from the UK Biobank.
| Loci | Chr (hg19) start-stop Mb | n Genes (Gene) | Type | Ascertainment (cohorts) | N | Age (SD) | Sex (M/F) | Diagnoses ASD/SZ/other | IQ loss | OR ASD/SZ |
|---|---|---|---|---|---|---|---|---|---|---|
| 1q21.1 | chr1 146.5–147.3 | 7 CHD1L |
Del | Clinical (EU, SVIP, BC, CDF) | 28 | 38 (21) | 22/18 | 1 / 1 / 10 | 15 | 3.2/6.4 |
| Non clinical (UKB) | 12 | |||||||||
| Dup | Clinical (EU, SVIP, BC, CDF) | 17 | 47 (19) | 18/12 | 1 / 0 / 4 | 25 | 5.3/2.9 | |||
| Non clinical (UKB) | 13 | |||||||||
| TAR | chr1 145.3–145.8 | 15 RBM8 |
Dup | Non clinical (UKB) | 31 | 60 (8) | 14/17 | - | 2.4 | -/1 |
| 13q12.12 | chr13 23.5–24.8 | 5 SPATA13 |
Dup | Non clinical (UKB) | 21 | 62 (8) | 11/10 | - | 0.6 | - |
| 15q11.2 | chr15 22.8–23.0 | 4 CYFIP1 |
Del | Non clinical (UKB) | 108 | 65 (7) | 59/49 | 0 / 0 / 2 | 5.7 | 1.3/1.9 |
| Dup | Non clinical (UKB) | 144 | 64 (7) | 77/67 | 0 / 0 / 6 | 0.9 | 1/1 | |||
| 16p11.2 | chr16 29.6–30.2 | 27 KCTD13 |
Del | Clinical (BC-CDF-EU-SVIP) | 78 | 19 (15) | 37/45 | 13 / 0 / 36 | 26 | 14.3/1.1 |
| Non clinical (UKB) | 4 | |||||||||
| Dup | Clinical (BC-CDF-EU-SVIP) | 68 | 34 (17) | 32/43 | 10 / 1 /19 | 11 | 10.5/11.7 | |||
| Non clinical (UKB) | 7 | |||||||||
| 16p13.11 | chr16 15.5–16.2 | 6 MYH11 |
Dup | Non clinical (UKB) | 50 | 66 (6) | 26/24 | - | 8.7 | 1.5/2 |
| 22q11.2 | chr22 19.0–21.4 | 49 AIFM3 |
Del | Clinical (BC-CDF-UCLA) | 68 | 14 (6) | 33/35 | 8 / 2 / 31 | 28.8 | 32.3/23 |
| Dup | Clinical (BC-CDF-UCLA) | 19 | 29 (23) | 11/15 | 2 / 0 / 9 | 8.3 | 2/0.2 | |||
| Non clinical (UKB) | 7 | |||||||||
| Controls | Clinical(BC-CDF-EU-SVIP-UCLA) | 317 | 48 (21) | 387/395 | 1 / 0 / 23 | - | - | |||
| Non clinical (UKB) | 465 | |||||||||
Diagnoses column reports the number of participants with ASD, SZ, and other diagnoses including the following list: language disorder, major depressive disorder, post traumatic stress disorder (PTSD), unspecified disruptive and impulse-control and conduct disorder, social anxiety disorder, social phobia disorder, speech sound disorder, moderate intellectual disability, specific learning disorder, gambling disorder, bipolar disorder, conduct disorder, attention deficit/hyperactivity disorder ADHD, Substance abuse disorder, global developmental delay, motor disorder, obsessive compulsive disorder, sleep disorder, Tourette’s disorder, mood disorder, eating disorders, transient tic disorder, trichotillomania, pervasive developmental disorder NOS, specific phobia, body dysmorphic disorder, mathematics disorder, dysthymic disorder. IQ loss and odds ratio (OR) for autism spectrum disorder and schizophrenia risk were extracted from previous publications (3, 51). Detailed demographics are reported in Table ST1.
Abbreviations, Del: deletion; Dup: duplication; BC: Brain-Canada (University of Montreal); CDF: Cardiff University; EU: the 16p11.2 European Consortium; UKB: UK Biobank; SVIP: the Simons Variation in Individuals Project; ASD: autism spectrum disorder; SZ: schizophrenia; OR: Odds ratio; IQ: intelligence quotient; chr: chromosome; M: male; F: female; Age: mean age; SD: standard deviation; n Genes: number of genes encompassed by the CNV.