Table 2.
Comparison of phenotype between this study patients with UFM1 and UFC1 mutations and those previously reported with mutations in UFM1 and UBA5
| Comparison between UFM1-UBA5-UFC1 pathway reported cases | ||||
|---|---|---|---|---|
| Current cohort | UFM1-related cases | UBA5-related cases | ||
| Gene | UFC1 | UFM1 | UFM1(PubMed: 28931644) | UBA5 |
| (PubMed: 27545681, 27545674, 28965491) | ||||
| Mutation | c.317C>T; c.68G>A | c.241C>T | c.-273_-271delTCA | c.1111G>A |
| c.904C>T | ||||
| c.971_972insC | ||||
| c.778G>A | ||||
| c.1165G>T | ||||
| c.169A>G | ||||
| c.503G>A | ||||
| c.164G>A | ||||
| c.684G > A | ||||
| Number of cases | 8 | 4 | 16 | 19 |
| Failure to thrive | 100% (8/8) | 100% (4/4) | 63% (10/16) | 89% (8/9) |
| Short stature | 88% (7/8) | 100% (4/4) | 75% (12/16) | 77% (10/13) |
| Microcephaly | 88% (7/8) | 100% (4/4) | 100% (16/16) | 100% (18/18) |
| Global developmental delay | 100% (8/8) | 100% (4/4) | 100% (16/16) | 100% (19/19) |
| Seizures | 50% (4/8) | 100% (4/4) | 75% (12/16) | 84% (16/19) |
| Brain MRI | ||||
| Basal ganglia abnormality | 33% (2/6) | 0% (0/4) | 100% (16/16) | 0% (0/17) |
| Delayed CNS myelination | 17% (1/6) | 75% (3/4) | 100% (16/16) | 24% (4/17) |
| Cerebellar hypoplasia | 0% (0/6) | 75% (3/4) | 81% (13/16) | 24% (4/17) |
| Mortality | 0% (0/8) | 100% (4/4) | 56% (9/16) | 24% (4/19) |