More than 560 variants have been described for BMPR2 in ClinVar site (https://www.ncbi.nlm.nih.gov/clinvar), and most of the BMPR2 mutations known to be associated with IPAH cause a loss-of-receptor function.[9,10] The c.119InsT mutation generates a premature stop codon at a position corresponding to amino acid 48 in exon 2 and; therefore, a truncated peptide containing only the extracellular ligand-binding domain (Fig. 1). This evidence concerns the gene BMPR2 and idiopathic pulmonary arterial hypertension.