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

From: Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

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)
  1. MPV17: NM_002437, DGUOK: NM_080918, POLG: NM_002693, MICOS13: NM_205767
  2. EB elder brother, ES elder sister, LT liver transplantation, ND not detected, YB younger brother, YS younger sister, * Stop codon
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172

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