One participant carried a homozygous deletion in PAH, c.558_559del, which is predicted to result in protein truncation, while the other carried both a heterozygous missense variant in PAF, c.204A > T, and a heterozygous 4.2 Mb inversion displacing exons 8–14 of PAH (Figure 4d,e). Here, PCLAF is linked to pulmonary arterial hypertension.