Table 1. Patients’ clinical features.
| Case # | 1 | 2 | 3 | 4 | 5 |
|---|---|---|---|---|---|
| Mutation | c.131G>A p.(Gly44Asp) |
c.131G>T p.(Gly44Val) |
c.230G>A p.(Ser77Asn) |
c.101T>G p.(Leu34Trp) |
c.915_916del, p.(*306Thrext*12) |
| De novo | Yes | Yes | Yes | Yes | Yes |
| Sex | Male | Male | Female | Male | Male |
| Current age (years) | 5 | 5 | Deceased | 13 | 18 |
| Country | Vietnam | Jordan | Chile | England | Israel |
| Birth Weight (g) | 2600 | 3000 | 2986 | 2920 | 3600 |
| Gestation (weeks) | 39 | N/A | 40 | 40 | 42 |
| Birth weight centile (SDS) | 4th (-1.74) | N/A | 18th (-0.90) | 7th (-1.44) | 20th (-0.84) |
| Diabetes features | |||||
| Age at onset (weeks) | 9 | 4 | 17 | 56 | 21 |
| Insulin treatment | from diagnosis, 0.46U/kg/day (at 2 months) | from diagnosis, 0.8U/kg/day | from diagnosis, 1.0U/kg/day | from diagnosis, 0.7U/kg/day | from diagnosis, 0.75U/kg/day |
| Hepatic features | |||||
| Age at first episode of liver dysfunction | 38 months | None reported | 16 months | 18 months | 5 months |
| Outcome of first episode | Resolved | N/A | Decease | Resolved | Resolved |
| Recurrent episodes | No | N/A | N/A | Yes, 8 episodes | Yes, 2 episodes |
| Age at last episode of liver dysfunction | N/A | N/A | N/A | 5.5 years | 5.5 months |
| Other features | |||||
| Neurological features | None | None | None | Mild learning disability | Attention deficit disorder |
| Additional Comments | Anaemia | Died at 16 months following respiratory infection and acute liver failure | Renal failure at 14 years | ||