Genotype‐Phenotype Effects of<i>Bmpr2</i>Mutations on Disease Severity in Mouse Models of Pulmonary Hypertension

Abstract excerpt

More than 350 mutations in the type‐2 BMP (bone morphogenetic protein) receptor, BMPR2 , have been identified in patients with heritable pulmonary arterial hypertension (HPAH). However, only 30% of BMPR2 mutation carriers develop PAH, and we cannot predict which of these carriers will develop clinical disease. One possibility is that the nature of the BMPR2 mutation affects disease severity. This hypothesis has...

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