Fig. 2From: EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertensionPedigree of HPAH family. Affected individuals have filled symbols, healthy individuals empty symbols. Age, mutation status and age of PAH onset are provided below. Patient III:3 received a lung transplantation one year after diagnosis and died of transplant rejection one year later. The BMPR2 mutation leads to a premature stop codon and the EIF2AK4 mutation to a splice site change and subsequent loss of exon 38 presumably followed by a frame shift and premature insertion of a stop codonBack to article page