Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report

Table 2 Summary of gene mutations associated with pulmonary arterial hypertension in the family

Pulmonary arterial hypertension-related gene mutation	Mutation site dbSNP	Subjects with the positive gene mutation1
ACVRL1	rs121909284	β, γ, δ, ε, ζ
	rs706815	α, β, γ, δ, ε, ζ
BMPR2	rs11390605	α, β, γ, δ, ε, ζ
SMAD4	rs57847829	β, γ
BMPR1B	rs1365691	β, δ
CAV1	rs1997623	α, β, γ, δ, ε, ζ
	rs2742125	α, β, γ, δ, ε, ζ
KCNK3	rs1275920	α, β, γ, δ, ε, ζ
	rs1663002	α, β, γ, δ, ε, ζ
TBX2	rs35619711	α, β, γ, δ, ε, ζ
	rs9891115	α, β, γ, δ, ε, ζ
	rs2240736	α, β, γ, δ, ε, ζ
	rs1057987	α, β, γ, δ, ε, ζ
TBX4	rs3744447	α, β, γ, δ, ε, ζ
CBLN2	rs59751882	β, ζ
	rs17853471	β, ζ
	rs7237888	α, β, γ, δ, ε, ζ
CYP1B1	rs1056837	α, β, γ, δ, ε, ζ
	rs1056836	α, β, γ, δ, ε, ζ
BAX	rs4645881	α, β, γ, δ, ε, ζ
	rs1805419	α, β, γ, δ, ε, ζ
STAT3	rs3830585	α, β, γ, δ
	rs199748968	α, β
	rs2293152	α, β, γ, δ, ε, ζ

¹Refer to the pedigree chart (Figure 3) for family members corresponding to Greek letters. dbSNP: Single-nucleotide polymorphism database.