Table 1.
Clinical case cohorts
| Cohorta | Total no. of cases | Total no. exonic ASTN1 CNVsb | Total no. exonic ASTN2 CNVsb | No. of NDD individuals (males/females) | No. of exonic ASTN2 CNVs in NDD individuals |
|---|---|---|---|---|---|
| Alberta Children's Hospital | 1619 | 0 | 1 (1 loss) | 1170 (675/495) | 1 (1 loss) |
| BBGRE | 14 847 | 2 (1 loss, 1 gain) | 3 (3 losses) | 9650 (6486/3164) | 1 (1 loss) |
| Boston Children's Hospital | 7320 | 1 (1 loss) | 8 (6 losses, 2 gains) | 6623 (4152/2471) | 6 (5 losses, 1 gain) |
| Credit Valley Hospital | 3552 | 0 | 2 (1 loss, 1 gain) | 3098 (2055/1043) | 2 (1 loss, 1 gain) |
| Hospital for Sick Children | 7411 | 0 | 5 (5 losses) | 4863 (3267/1596) | 5 (5 losses) |
| Italian diagnostic labsc | 6626 | 0 | 6 (3 losses, 3 gains) | 5568 (3272/2296) | 6 (3 losses, 3 gains) |
| Mayo Clinic | 19 131 | 0 | 7 (6 losses, 1 gain) | 11 208 (7282/3926) | 6 (5 losses, 1 gain) |
| Odense University Hospital | 551 | 0 | 2 (2 losses) | 289 (182/107) | 2 (2 losses) |
| Signature Genomics | 26 973 | 0 | 17 (13 losses, 4 gains) | 19 690 (11 617/8073)d | 13 (11 losses, 2 gains) |
| The Centre for Applied Genomicse | 1955 | 0 | 7 (6 losses, 1 gain) | 1955 (1450/505) | 7 (6 losses, 1 gain) |
| Total | 89 985 | 3 (2 losses, 1 gain) | 58 (46 losses, 12 gains) | 64 114 (40 438/23 676) | 49 (40 losses, 9 gains) |
BBGRE, brain and body genetic resource exchange (http://bbgre.org); NDD, neurodevelopmental disorders.
aTen different molecular diagnostic sites that contributed clinical microarray data for this study. Further descriptions are available in the following references: Chen et al. (97) for Boston Children's Hospital data, Hodge et al. (53) for Mayo Clinic data, Rosenfeld et al. (98) for Signature Genomics data and Ahn et al. (99) for BBGRE data. The microarray platforms utilized at each site and their corresponding number of probes within ASTN1 and ASTN2 are summarized in Supplementary Material, Table S9.
bAll CNVs in the clinical cohorts <6 Mb that overlapped one of more exons of ASTN1 or ASTN2 were included in the counts above.
cItalian cohort includes data from individuals tested at five different molecular diagnostic sites: Cremona, Pavia, San Giovanni Rotondo, Tor Vergata and Troina.
dSex distribution of the Signature Genomics cohort was extrapolated from that found in a sampling cross-section of the data by Ernst et al. (22).
eThe Centre for Applied Genomics cohort includes 415 Canadian individuals with ADHD (Lionel et al. (31)) genotyped on the Affymetrix 6.0 (n = 248) and the Affymetrix CytoScan HD (n = 167), 174 individuals with OCD genotyped on the Illumina Omni2.5M-quad and 1366 Canadian individuals with ASD (Sato et al. (7)) genotyped on one of the following microarray platforms: Affymetrix 6.0, Agilent 1M, Illumina 1M or Affymetrix CytoScan HD.