Through exome sequencing of 99 pediatric and 134 adult PAH cases, 11 novel or rare missense mutations located in conserved regions of ABCC8 were identified: c.A214G (p.N72D), c.G558T (p.E186D), c.G718A (p.A240T), c.G2371C (p.E791Q), c.T2694+2G, c.G331A (p.G111R), c.C403G (p.L135 V), c.G2437A (p.D813N), c.G4414A (p.D1472N), c.C686T (p.T229I), and c.G3941A (p.R1314H). This evidence concerns the gene ABCC8 and pulmonary arterial hypertension.