The two patients (A100593 and A100719) in the present study were mother and daughter, and they had family aggregates of heritable PAH, carrying a BMPR2 variant (c.1750C>T, p. Arg584*) and an ATP13A3 splicing variant (c.970+1 G>A). The gene discussed is ATP13A3; the disease is pulmonary arterial hypertension.