Table 1.
Summary of Clinical Features of Individuals with Bi-allelic Truncating NUP188 Variants
| Family | 1 | 2 | 3 | 4 | ||
|---|---|---|---|---|---|---|
| Individual | 1 | 2 | 3 | 4 | 5 | 6 |
| Variants (NM_015354) | p.Ile302Valfs∗7 | p.Ile302Valfs∗7 | p.Arg1678Profs∗13 (hmz) | p.Trp630∗ | ||
| p.Trp1048∗ | p.Trp1048∗ | p.Gln1360∗ | ||||
| Gender | F | F | F | F | F | F |
| Age at death | 5 months | 5 weeks | 7 months | 2 years 7 months | 2.5 months | 1 month |
| Cause of death | respiratory failure | respiratory failure | respiratory failure | respiratory failure | respiratory failure | respiratory failure |
| Ophthalmologic abnormalities | + | + | + | + | − | + |
| Congenital fetal nuclear cataracts | + | + | + | − | − | + |
| Congenital heart defects | + | + | + | not tested | + | + |
| Respiratory abnormalities | + | + | + | + | + | + |
| Central hypoventilation | + | + | + | − | − | + |
| Neurological abnormalities | + | + | + | + | − | + |
| Hypotonia | + | + | + | + | − | + |
| Seizures | − | − | + | + | − | + |
| Poor oral co-ordination | + | + | + | − | − | − |
| MRI abnormalities | + | + | + | + | + | + |
| Thin corpus callosum | + | + | + | + | + | − |
| Delayed myelination | + | + | − | + | + | − |
| Loss of white matter | − | − | + | − | + | − |
| Ventriculomegaly | + | + | + | + | − | + |
Abbreviations: F, female; hmz, homozygous; +, present; and −, absent.