Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

Abstract

Mutations in the bone morphogenetic protein receptor type II (<i>BMPR2</i>) gene may result in the development of pulmonary arterial hypertension (PAH). However, the contribution of disease-causing mutations to the disease characteristics and responsiveness to recent treatment remains to be elucidated. We report three Japanese cases of advanced PAH with novel <i>BMPR2</i> mutations, including two splicing mutations (IVS8-6_7delTTinsA and IVS9-2A>G) and one deletion (c.1279delG) mutation.