Table 2.
Enrichment of Rare De Novo Variants Among Pediatric-Onset Idiopathic Pulmonary Arterial Hypertension Trios (n = 36) Compared With an Estimated Background Mutation Rate
| Variant Type | No. Observed | No. Expected by Chance | Enrichment | P Value |
|---|---|---|---|---|
| SYN | 11 | 11.1 | 0.99 | 1 |
| Mis | 29 | 24.6 | 1.18 | .36 |
| D-Mis | 11 | 4.7 | 2.35 | .009 |
| LGD | 6 | 3.4 | 1.75 | .46 |
| D-Mis + LGD | 17 | 8.0 | 2.11 | .004 |
Bold font indicates statistically significant data. D-Mis = damaging missense predicted by MetaSVM; LGD = likely gene-disrupting (frameshift, stop-gain, and canonical splice site); Mis = all missense; SYN = synonymous.