High Frequency of <i>BMPR2</i> Exonic Deletions/Duplications in Familial Pulmonary Arterial Hypertension

Abstract

Our study indicates that BMPR2 exonic deletions/duplications in patients with FPAH account for a significant proportion of mutations (48%) that until now have not been screened for. Because the complementary approach used in this study is rapid and cost effective, screening for BMPR2 deletions/duplications by MLPA and real-time PCR should accompany direct sequencing in all PAH testing.