The first mutation to be discovered in familial pulmonary arterial hypertension was in the bone morphogenetic protein receptor type 2 (BMPR2).
The Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) signalingpathway causes increased medial hypertrophy and intimal fibrosis in small arteries. This leads to pulmonary hypertension.
Inactivating germline mutations in the BMPR2 gene are found in 75% of the familial cases of pulmonary hypertension, and 25% of sporadic cases.