Table 3 Summary of AP3B1 mutations and pulmonary manifestations in HPS-2.

1^b

14

M

c.1525C>T; p.R509X c.1975G>T; p.E659X

Pulmonary fibrosis, secondary pulmonary hypertension, viral pneumonias, ventilatory failure, pneumothoraces

13

2^b

27

M

IVS11-1G>C (splice site) c.1739T>G; p.L580R

Respiratory tract infections, interstitial lung disease

12

3^b

22

M

IVS11-1G>C (splice site) c.1739T>G; p.L580R

Respiratory tract infections, interstitial lung disease

12

4^b

4

M

IVS10 + 5G>A (splice site) IVS10 + 5G>A (splice site)

Pulmonary fibrosis, secondary pulmonary hypertension, pneumonias, ventilatory failure, asthma, sleep apnea

20

5

21

M

IVS14 + 6T>C (splice site) c.1619insG; p.G540fsX25

None reported

15

6

7

F

c.1063ins-del; p.Q355fsX360 c.1789insC; p.I597fsX608

Pneumonia, respiratory tract infections

16

7

4

M

c.1063ins-del; p.Q355fsX360 c.1789insC; p.I597fsX608

None reported

16

8

2

M

c.904A>T; p.R302X c.904A>T; p.R302X

Pneumonias

17

9

15

F

g.del8168bp; p.del491-550 g.del8168bp; p.del491-550

None reported

18

10

21

M

g.del8168bp; p.del491-550 g.del8168bp; p.del491-550

Pneumonias

18

11

3

F

c.del2078-2165; p.E693fsX13

None reported

19

12

3

M

c.del153-156; p.E52fsX11

Pulmonary fibrosis, respiratory tract infections, bronchiectasis

19