| Â |
DYRK1A sample | SSC idiopathic sample |
CHD8 sample |
|---|
Disruptive SNVs |
CHR
| No disruptive SNVs or deleterious CNVs | Disruptive SNVs |
|---|
Pub-SNV | UW-SNV | Pub-CHR | Total sample | IQÂ <Â 70 | Â |
|---|
Total N (male) | 32 (22) | 10 (4) | 19 (9) | 1981 (1705) | 487 (407) | 12(9) |
Mean age in months (SD) | 124.12 (128.85) | 108.40 (69.12) | 102.22 (88.06) | 107.66 (42.34) | 114.00 (44.00) | 148.08 (64.56) |
- Participant demographics. SNV single nucleotide variant, Pub-SNV published disruptive SNV cases, UW-SNV UW study cases with disruptive SNVs, Pub-CHR published chromosomal rearrangement, CNV copy number variant. Note that there are three overlapping individuals in the Pub-SNV and UW-SNV groups ascertained from the Simons Simplex Collection. DYRK1A sample significantly differed from idiopathic ASD samples (total and IQ < 70) in gender ratio, χ2 (1, n = 2042) = 66.88, p < 0.001 and χ2 (1, n = 548) = 36.25, p < 0.001, respectively. Samples did not significantly differ in age, p > 0.05. No significant differences in age or gender for DYRK1A and CHD8 samples
