For these studies we evaluated BMPR2 expression in lymphocytes derived from an HPAH patient from Vanderbilt PAH Family 108 (F108) who carry a splice site mutation predicted to result in an in-frame deletion of BMPR2 EXON2, which encodes residues 26-82 of the 1038 full length BMPR2 protein[30]. This evidence concerns the gene BMPR2 and pulmonary arterial hypertension.