Figure 3.

Pathogenic and suspected pathogenic variations detected in the USPHSR patient population; 67 unique patients were identified to have mutations in 14 genes. Five patients have mutations in two genes. Tissue kallikrein 1 (KLK1) and gamma glutamyl carboxylase (GGCX) were identified recently as new candidate risk genes for idiopathic pulmonary arterial hypertension with genome-wide significance.³² Established risk genes include BMPR2, ACVRL1, ENG, TBX4, BMPR1B, and EIF2AK4. Newly established risk genes include ABCC8, ATP13A3, GDF2, KCNA5, SOX 17, SMAD1, GGCX, and KLK1. USPHSR = United States Pulmonary Hypertension Scientific Registry.