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Table 5 Molecular and neurological findings as well as outcomes in 20 MPV17-deficient patients who received LT

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

  Sex Allele 1 Allele 2 Age at onset Neurological findings LT age Outcome
Before LT After LT
Pt68EB M c.451dupC: p.L151Pfs*39 c.509C > T: p.S170F 3 m hypotonia + 17 m died (1 y 10 m)
Pt68YB M c.451dupC: p.L151Pfs*39 c.509C > T: p.S170F 8 m hypotonia + 6 y died (6 y)
Pt936 M c.451dupC: p.L151Pfs*39 c.451dupC: p.L151Pfs*39 1 m developmental delay, hypotonia + 4 m died (1 y 9 m)
Pt1244 M c.451dupC: p.L151Pfs*39 c.451dupC: p.L151Pfs*39 1 m developmental delay, hypotonia + 11 m died (2 y 9 m)
Pt1273 F c.451dupC: p.L151Pfs*39 c.71-2_79del11ins4 1 m developmental delay + 1 y died (3 y)
Pt1702 M c.451dupC: p.L151Pfs*39 c.293C > T: p.P98L neonate – psychosis, intellectual disability, fine motor dysfunction, dysarthria 8 m alive (23 y)
Pt2017EB M c.148C > T: p.R50W c.149G > A: p.R50Q 7 m mild intellectual disability mild headache 7 y alive (8 y)
Pt2017YS F c.148C > T: p.R50W c.149G > A: p.R50Q 1 y – – 5 y alive (5 y)
Pt2017ES F c.148C > T: p.R50W c.149G > A: p.R50Q 4 y 5 m – – 7 y alive (8 y)
Parini 2009 M c.149G > A: p.R50Q c.149G > A: p.R50Q 1 m – developmental delay, ataxia, severe motor-sensory axonal polyneuropathy 2 y alive (6 y)
Karadimas 2006 F c.149G > A: p.R50Q c.149G > A: p.R50Q 6 m – hypotonia, gross and fine motor delay, peripheral neuropathy 9 m alive (12 y)
Karadimas 2006 F c.149G > A: p.R50Q c.149G > A: p.R50Q 1 m hypotonia, hyporeflexia + 16 m died (2 y)
Karadimas 2006 F c.149G > A: p.R50Q c.149G > A: p.R50Q 4 m – peripheral neuropathy 11 y alive (21 y)
Wong 2007 M c.206G > A: p.W69* c.206G > A: p.W69* birth – – 5 m died (6 m)
Navarro 2008 M c.70 + 5G > A c.70 + 5G > A 2 m hypotonia + 1 y died (2 y)
El-Hattab 2010 M c.262A > G: p.K88E c.262A > G: p.K88E neonate NA developmental delay, muscle weakness NA died (2.5 y)
El-Hattab 2010 M c.485C > A: p.A162D c.271_273del3: p.L91del infancy NA hypotonia NA alive (4 y)
Mudd 2012 M c.22_23insC ND infancy hypotonia, mild motor delay + 7 y died (9 y)
Uusimaa 2014 M c.191C > G: p.P64R c.293C > T: p.P98L 5 m – progressive demyelinating peripheral neuropathy 3 y alive (11.5 y)
Vilarinho 2014 F c.148C > T: p.R50W c.148C > T: p.R50W 5 y – dystonia, tremor, seizure 9 y died (10 y)
  1. EB elder brother, ES elder sister, LT liver transplantation, NA not available, ND not detected, YB younger brother, YS younger sister, * Stop codon
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172