Skip to main content

Table 4 Burden of de novo variants in pediatric-onset PAH (n = 124 child-parent trios)

From: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

  Variant type* Observed Expected by chance Enrichment p value Estimated # of risk variants
All genes
(18,939 genes)
SYN 42 38.3 1.1 0.51 N/A
LGD 14 11.8 1.2 0.46 N/A
MIS 93 84.7 1.1 0.36 N/A
D-Mis 30 17.3 1.73 0.005 N/A
LGD + D-Mis 44 28.9 1.52 0.009 15
HLE or HHE**
(5756 genes)
SYN 18 14.01 1.28 0.28 N/A
LGD 10 4.69 2.13 0.03 N/A
MIS 40 31.68 1.26 0.15 N/A
D-Mis 19 7.25 2.62 2.0e−4 12
LGD + D-Mis 29 11.85 2.45 2.5e−5 17
  1. * SYN, synonymous; LGD, likely gene-disrupting; MIS, missense; D-Mis, deleterious missense based on REVEL > 0.5
  2. **HLE, high lung expression (murine E16.5 lung stromal cells); HHE, high heart expression (murine E14.5 heart)