Fig. 3.

Pedigrees of three non-BMPR2 families. a Pedigree of AQP1 family. The index patient and his uncle carried the heterozygous missense mutation in exon 1 of the gene AQP1 X1 c.376C > T p.(Arg126Cys). The brother and father of the index patient had died of PAH. No further samples were available from the family. b Pedigree of SOX17 family. The familial heterozygous missense mutation was located in exon 2 of the gene SOX17 c.413G > C p.(Arg138Pro). It was prevalent in all three siblings and cousin of the index with PAH, while being absent in the only healthy sibling of the index patient. c Pedigree of KCNK3 family. Both parents were heterozygous for the 18 bp duplication in exon 1 c.250_267dup p.(Val84_Thr89dup) displayed in grey. Downstream to the left are the same 18 bp present in the wild-type reference sequence. Both children developed PAH and were homozygous for the duplication. Filled symbol: PAH, empty symbol: healthy family member; the number within the symbols is current age or age at death, Dx: age at diagnosis; upper sequence: wild type reference sequence, bottom sequence: sequence of family member; grey: duplicated sequence not present in the wild-type reference sequence