Table 1.
Analysis of genome sequencing, liver specimens, and in vitro mutagenesis in normal-GGT PFIC patients.
| Disease | Current age | Gender | Genome |
Liver |
In vitro Mutagenesis |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ATP8B1 |
ABCB11 |
ATP8B1 | BSEP | Alelle 1 of ATP8B1 |
||||||||
| Allele 1 | Allele 2 | Allele 1 | Allele 2 | Expression | Localization | Function | ||||||
| PFIC1 | no.1 | 3y | M | c.2124_2125insGAGCTACAGCTATTGAAGGC (p.K709fsX41) | exon 2–6 del | NF | BQL | + | ND | |||
| no.2 | 4y | F | c.916 T > C (p.C306R) |
c.2854C > T (p.R952X) |
NF | BQL | + | BQL | ER | ↓↓ | ||
| no.3a | 10y | F | c.2941G > A (p.E981K) |
c.1371del (p.G457fsX6) |
NF | NA | ↓ | PM and intracellular | ↓↓ | |||
| no.4 | 10y | F | c.727del (p.L243fsX28) |
c.2854C > T (p.R952X) |
NF | NA | ND | |||||
| PFIC1-like | no.1b | 5y | M | c.3033-34del (p.L1011fsX18) |
NF | NF | BQL | + | ND | |||
| no.2b | 10y | M | c.1585-87del (p.F529del) |
NF | NF | BQL | + | ND | ||||
| no.3c | 8y | M | c.3579_3589del (p.R1193fsX39) |
NF | NF | BQL | + | ND | ||||
| no.4 | 17y | M | c.234C > G (p.H78Q) c.1729A > G (p.I577V) c.2021 T > C (p.M674 T) |
NF | NF | + | + | + | PM | + | ||
| PFIC2 | no.1 | 3y | F | NF | c.386G > A (p.C129Y) |
c.1460G > A (p.R487H) |
+ | ↓↓ | ND | |||
| no.2 | 2y | F | NF | c.386G > A (p.C129Y) |
c.386G > A (p.C129Y) |
+ | ↓↓ | ND | ||||
| no.3d | 3y | F | NF | c.3692G > A (p.R1231Q) |
c.3692G > A (p.R1231Q) |
+ | ↓↓ | ND | ||||
| PFIC2-like | no.1 | 3y | F | NF | c.386G > A (p.C129Y) |
NF | + | ↓ | ND | |||
BQL, below quantification limit; ER, endoplasmic reticulum; F, female; M, male; NA, not available; ND, not done; NF, not found; PM, plasma membrane; +, normal; ↓, decreased; ↓↓, severely decreased.
a
Numakura C et al.,Pediatr Int. 2011 Feb;53(1):107–10.
c
Mochizuki K et al., Pediatr Surg Int. 2012 Jan; 28(1):51–4.