Fig. 1

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 (AII.2) with a clinical presentation of Pulmonary veno-occlusive disease shows dilated pulmonary trunk, small pleural, pericardial effsuions, and interlobular septal thickening in the lung bases. The lower panel is the asymptomatic older brother’s (AII.1) CT scan which doesn’t show any abnormality in the chest. c Sanger chromatogram tracing confirming the NGS variant sequence for both AII.1 and AII.2, and showing the EIF2AK4 mutation as detailed in the supp. Table from whole exome sequencing results