Table1.
Summary of the demographics, clinical features and genetic alterations of the three probands
| Patient Number |
Ethnicity (Consanguinity) |
Age of Onset |
Age at the time of transplant |
Age of Death/ Current Age |
Presenting Features |
Gene (NM_number) |
Mutation | Homozygous / Heterozygous |
Amino Acid or Nucleotide change (coding DNA nomenclature) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Indian (Yes) | 5 y | 9 y | 9 y / NA | bilateral lower extremities spasms and abnormal LFTs | MPV17 (NM_002437.4) | Missense | Homozygous | R50W (c.148T>C) |
| 2 | Pakistani (Yes) | 2 d | NA | 12 d / NA | shock, coagulopathy, lactic acidemia, hyperammonemia, elevated transaminases, hyperbilirubinemia and hypoalbuminemia | SERAC1 (NM_032861.3) | Splice site | Homozygous | IVS13+1OC (c.1403+1G>C) |
| 3 | Hispanic (No) | 3 m | NA | NA / 8 y | jaundice and pruritus | NOTCH2 (NM_024408.3) | Missense | Compound Heterozygous | S1741L (c.5222C>T) and H1882Y (c.5644C>T) |
y=years; d=days; m=months; NA=not applicable; LFTs=liver function tests.