In exome-sequencing a cohort of 99 paediatric- and 134 adult-onset Group 1 PAH patients (182 IPAH and 52 HPAH), Bohnen et al. [113] identified a de novo heterozygous predicted deleterious missense variant in ABCC8 in a child with IPAH. This evidence concerns the gene ABCC8 and pulmonary arterial hypertension.