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. 2015 Jul 13;10(7):e0133042. doi: 10.1371/journal.pone.0133042

Fig 1. Pedigree of Family 1.

Fig 1

The index patient of Family 1 (II:1, arrow) is carrier of the BMPR2 promoter mutation c.-669G>A [21] and a deletion of exon 2 and 3 of the same gene. The c.-669G>A promoter variant is present in four additional family members (II:3, II:7, II:9, III:5) while the deletion of exon 2 and 3 is unique to the index patient with manifest PAH. Mut: mutation, UTR: untranslated region, WT: wild type, Del: Deletion, X 2–3: exon 2 to 3. The horizontal line separates the two loci in BMPR2 promoter and BMPR2 exon 2 to 3.