Fig. 1

Segregation of the pathogenic variants identified in 9 familial PAH. a Eight families carried BMPR2 variants and one family carried a KCNK3 variant. Nucleotide and amino acid changes for BMPR2 and KCNK3 are described on NM_001204.6 and NM_002246.2, respectively. Index patients of each family are pointed with arrows. The subjects whose DNAs were available are indicated in plus signs. b All the possible pathogenic variants discovered in the eight PAH families were located before or in the kinase domain. Four previously reported and four novel variants were indicated with black and red letters, respectively