Table 5.
Molecular and neurological findings as well as outcomes in 20 MPV17-deficient patients who received LT
| 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) |
EB elder brother, ES elder sister, LT liver transplantation, NA not available, ND not detected, YB younger brother, YS younger sister, * Stop codon