Table 2 Distribution of 79 (likely) pathogenic variants in 74 PAH patients
From: Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension
IPAH (n = 201) | HPAH (n = 47) | CHD-APAH (n = 28) | CTD-APAH (n = 23) | Drugs and toxins induced PAH (n = 3) | PVOD (n = 16) | |
|---|---|---|---|---|---|---|
BMPR2 | 20 | 30 | – | – | 1 | – |
ACVRL1 | – | 3 | – | – | – | – |
AQP1 | – | 1 | – | – | – | – |
ATP13A3 | – | – | – | – | 1 | – |
EIF2AK4 | – | – | – | 2 | – | 6 |
ENG | 1 | – | – | – | – | – |
GDF2 | 1 | 1 | – | – | – | – |
KCNK3 | 1 | 2 | – | – | – | – |
SMAD9 | – | 1 | – | – | – | – |
SOX17 | 2 | 1 | 1 | – | – | – |
TBX4 | 4 | – | – | – | – | – |
Total | 29 in 27 patients | 39 in 39 patients | 1 in 1 patient | 2 in 1 patient | 2 in 2 patients | 6 in 4 patients |