Fig. 2

Identification of the novel BMPR2 variant. A Family pedigree of the patient with PAH with straight back syndrome. The filled symbol represents the affected patients, empty circles/squares represent the unaffected members. The index patient (II 2) is indicated by a black arrow. B and C Sanger sequencing showing the variant of c.2423_2424delGT in the 12th exon within BMPR2, which is located in the cytoplasmic tail domain. ECD, extracellular domain; TMD, transmembrane domain; KD, kinase domain; CTD, cytoplasmic tail domain