| |
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
|
IQ < 70
| |
|---|
|
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
