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)
|
- MPV17: NM_002437, DGUOK: NM_080918, POLG: NM_002693, MICOS13: NM_205767
- EB elder brother, ES elder sister, LT liver transplantation, ND not detected, YB younger brother, YS younger sister, * Stop codon