CAV1 and pulmonary arterial hypertension: By taking advantage of this methodology Austin et al. successfully identified a second causal gene in familial PAH, namely the human orthologue of Cav1. The analysis of 4 members of a multi-generational family led to the detection of a truncating mutation in CAV1 (c.474delA), a finding which was consolidated by the subsequent demonstration of mutation segregation amongst the other affected members of the family.