Fig. 3

Clinical and genetic characterization of Family A patients. a Pedigree for the family, showing the frameshift stop-gained EIF2AK4 mutation. The −/− symbol is for normal genes, −/+ is for heterozygous mutations and the +/+ is for homozygous mutations. Male; Circle, female; open symbol, unaffected; filled symbol, affected, the symbol with arrow: Death. Current age or age at death in years is between parenthesis. b The chest CT scan of the index patient (BII.4) with a clinical presentation of hereditary pulmonary arterial hypertension shows normal parenchyma and minimal pericardial effusion. The lower panel is the older brother’s (BII.1) CT scan which shows enlarged pulmonary artery and no parenchymal changes. Both Images did not have neither pleural effusion, nor centrilobular nodules. c Sanger chromatogram tracing confirming the NGS variant sequence for the patient and showing the mutation as detailed in the supp. Table from whole exome sequencing results