Table 4.
Identified gene mutations in patients, liver transplantation status, and clinical outcomes
| ID | Gene | Allele 1 | Allele 2 | Age at onset | LT (age) | Outcome |
|---|---|---|---|---|---|---|
| Pt68EB | MPV17 | c.451dupC: p.L151Pfs*39 | c.509C > T: p.S170F | 3 m | + (1 y 5 m) | died (1 y 10 m) |
| Pt68YB | MPV17 | c.451dupC: p.L151Pfs*39 | c.509C > T: p.S170F | 8 m | + (6 y) | died (6 y) |
| Pt292 | MPV17 | c.451dupC: p.L151Pfs*39 | c.148C > T: p.R50W | 1 m | – | died (1 y 2 m) |
| Pt339 | MPV17 | c.293C > T: p.P98L | c.376-1G > A | 8 m | – | alive (12 y) |
| Pt936 | MPV17 | c.451dupC: p.L151Pfs*39 | c.451dupC: p.L151Pfs*39 | 1 m | + (4 m) | died (1 y 9 m) |
| Pt1244 | MPV17 | c.451dupC: p.L151Pfs*39 | c.451dupC: p.L151Pfs*39 | 1 m | + (11 m) | died (2 y 9 m) |
| Pt1273 | MPV17 | c.451dupC: p.L151Pfs*39 | c.71-2_79del11ins4 | 1 m | + (1 y) | died (3 y) |
| Pt1702 | MPV17 | c.451dupC: p.L151Pfs*39 | c.293C > T: p.P98L | neonate | + (8 m) | alive (23 y) |
| Pt1943 | MPV17 | c.451dupC: p.L151Pfs*39 | c.308_310del: p.C103del | neonate | – | died (10 m) |
| Pt2017EB | MPV17 | c.148C > T: p.R50W | c.149G > A: p.R50Q | 7 m | + (7 y) | alive (8 y) |
| Pt2017YS | MPV17 | c.148C > T: p.R50W | c.149G > A: p.R50Q | 1 y | + (5 y) | alive (5 y) |
| Pt2017ES | MPV17 | c.148C > T: p.R50W | c.149G > A: p.R50Q | 4 y 5 m | + (7 y) | alive (8 y) |
| Pt2170 | MPV17 | c.148C > T: p.R50W | c.271_273del: p.L91del | 7 m | – | died (1 y 11 m) |
| Pt50YS | DGUOK | c.143-307_170del335 | c.143-307_170del335 | neonate | – | died (9 m) |
| Pt50ES | DGUOK | c.143-307_170del335 | c.143-307_170del335 | 3 m | + (1 y 6 m) | died (1 y 7 m) |
| Pt66 | DGUOK | c.143-307_170del335 | c.743 T > C: p.L248P | neonate | + (8 m) | died (1 y 6 m) |
| Pt74 | POLG | c.3554 T > C: p.I1185T | c.2870C > T: p.A957V | 4 m | – | died (8 m) |
| Pt94 | MICOS13 | c.13_29del: p.W6Pfs*71 | c.13_29del: p.W6Pfs*71 | 3 m | – | died (8 m) |
| Pt63 | ND | – | – | 2 m | + (9 m) | alive (16 y) |
| Pt92 | ND | – | – | 1 m | – | died (7 m) |
| Pt148 | ND | – | – | neonate | – | died (1 m) |
| Pt1156 | ND | – | – | neonate | – | died (7 m) |
| Pt1589 | ND | – | – | 4 y 3 m | – | alive (6 y) |