Table S1. Background information, subjects with genetically-defined PFIC2 for PFIC2 control group.
| Patient | G | Sampling age | UDCA (mg) | ABCB11 mutations; BSEP consequences | BSEP expression on immunostaining | Status and age at last follow-up |
|---|---|---|---|---|---|---|
| N1 | M | 12.3 m | 30 bid | c.G634A, p. A212T, | ND | Died, 1.5 y |
| c.A849C, p. E283D | ||||||
| c.G1638T, p.Q546H | ||||||
| N2 | M | 1.5 y | 250 qd | c.612-(2_4) CTA>TT/- | (-) | Persistent cholestasis, 7.3 y |
| N3 | F | 3 m | 50 bid | c.145C>T, p.Q49X | (-) | Liver-transplantation, 4.5 y |
| c.1809G>C, p.K603N | ||||||
| N4 | M | 3.7 m | 60 bid | c.409G>A, p.E137K | (-) | Recurrent cholestasis, 6 y |
| c.2216delC, p.P740Qfs*6 | ||||||
| N5 | M | 1.7 y | 83.3 bid | c.1243C>T, p.R415X | (-) | Persistent cholestasis, 2 y |
| c.1493T>C:p.I498T | ||||||
| N6 | F | 5.3 m | 83.3 bid | c.1459C>T/p.R487C | (+) in cytoplasma | Jaundice free, 3.1 y |
| c.2594C>T/p.A865V | ||||||
| N7 | 6.5 m | 62.5 bid | c.1127C>A/p.A376D | ND | Jaundice free, 3.5 y | |
| c.1637A>G/p.Q546R | ||||||
| N8 | M | 2.9 m | 62.5 bid | c.1460G>A/p.R487H | (+) on canalicular | Jaundice free, 3.1 y |
| c.2086C>T/p.R696W | membrane |
N1 (P4), N2 (P5), N3 (P7), N4 (P10), N5 (P16) has been reported in previous study (19). M/F, male/female; ND, not done.