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Table 1 Summary of pathogenic variants and clinical features

From: A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension

Family ID

Sample ID

Gender

Diagnosis

Age at diagnosis (y.o.)

mPAPa (mmHg)

CIb (L/min/m2)

PVRc (dyne·sec/cm5)

Chromosome

Position

Gene

Exon

Nucleotide changed

Amino acid changed

rs ID

Polyphen

Mutation taster

LRT

PhyloP

MaxEnt scan

Human splice finder

Quality scoree

Referencef

1

OM0054

F

HPAH

23

81

2.3

1623

2

26,950,859

KCNK3

2

c.608G > A

p.Gly203Asp

-

1.000

1.000

0.000

2.407

N.A.

N.A.

179.78

Ma et al.[11], HPAH

2

OM0070

F

HPAH

23

55

1.8

1446

2

203,417,496

BMPR2

11

c.1471C > T

p.Arg491Trp

rs137852746

1.000

1.000

0.000

2.582

N.A.

N.A.

854.18

Deng et al.[1], H/IPAH

2

OM0071

F

HPAH

27

59

1.8

1371

2

203,417,496

BMPR2

11

c.1471C > T

p.Arg491Trp

rs137852746

1.000

1.000

0.000

2.582

N.A.

N.A.

854.18

Deng et al.[1], H/IPAH

3

OM0095

F

HPAH

30

62

2.7

730

2

203,242,213

BMPR2

1

c.16C > T

p.Gln6*

-

-

N.A.

N.A.

N.A.

N.A.

N.A.

772.78

Momose et al.[6], HPAH

4

OF0001

M

-

-

-

  

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

4

OF0002

F

-

-

-

  

2

203,407,024

BMPR2

10

c.1277–10_1277–9insGGG

splicing

-

-

N.A.

N.A.

N.A.

235.06

216.94

1932.84

-

4

OF0003

M

-

-

-

  

2

203,407,024

BMPR2

10

c.1277–10_1277–9insGGG

splicing

-

-

N.A.

N.A.

N.A.

235.06

216.94

1932.84

-

4

OM0106

F

HPAH

27

47

3.0

609

2

203,407,024

BMPR2

10

c.1277–10_1277–9insGGG

splicing

-

-

N.A.

N.A.

N.A.

235.06

216.94

1932.84

-

5

OM0079

F

HPAH

29

50

1.6

1556

2

203,417,465

BMPR2

11

c.1443_1445delAGA

p.Glu481del

-

-

N.A.

N.A.

N.A.

N.A.

N.A.

600.26

-

5

OM0195

M

HPAH

61

67

1.3

2234

2

203,417,465

BMPR2

11

c.1443_1445delAGA

p.Glu481del

-

-

N.A.

N.A.

N.A.

N.A.

N.A.

600.26

-

6

OM0104

F

HPAH

23

67

2.1

1257

2

203,417,494

BMPR2

11

c.1469C > T

p.Ala490Val

-

1.000

1.000

0.000

2.582

N.A.

N.A.

598.10

Machado et al.[4], IPAH

6

OM0178

M

HPAH

34

63

3.3

522

2

203,417,494

BMPR2

11

c.1469C > T

p.Ala490Val

-

1.000

1.000

0.000

2.582

N.A.

N.A.

598.10

Machado et al.[4], IPAH

7

OM0065

F

HPAH

26

47

3.5

636

2

203,331,443 ~ 203,338,403

BMPR2

3

NC_000002.11:g.(203331913_203331917)_(203338441_203338445)del

exon 3 deletion

-

-

N.A.

N.A.

N.A.

N.A.

N.A.

N.A.

-

8

OM0188

F

HPAH

36

70

1.9

1720

2

203,384,808

BMPR2

7

c.853-2A > G

splicing

  

N.A.

N.A.

N.A.

−85.96

−34.14

341.83

Machado et al.[4], IPAH

9

OM0250

F

HPAH

27

50

2.6

720

2

203,329,626

BMPR2

2

c.174_175dup

p.Leu59Tyrfs*20

-

-

N.A.

N.A.

N.A.

N.A.

N.A.

940.89

-

9

OM0251

M

-

-

-

  

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

9

OM0252

F

-

-

-

  

2

203,329,626

BMPR2

2

c.174_175dup

p.Leu59Tyrfs*20

-

-

N.A.

N.A.

N.A.

N.A.

N.A.

940.89

-

  1. amPAP: mean pulmonary artery pressure
  2. bCI: cardiac index
  3. cPVR: pulmonary vascular resistance
  4. dNucleotide and amino acid changes for BMPR2 and KCNK3 are described on NM_001204.6 or NM_002246.2, respectively, according to the Human Genome Variation Society nomenclature
  5. eQuality score from GATK
  6. fHPAH, IPAH, H/IPAH: The same pathogenic variants were found either in one of HPAH, IPAH or both HPAH and IPAH patient(s) in the previous reports