Table 4 Identified gene mutations in patients, liver transplantation status, and clinical outcomes

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)