Table 1.
Clinical features of affected individuals
| Clinical feature | Family 1, Individual III-1 | Family 2, Individual II-6 |
|---|---|---|
| Age at last evaluation | 15 months | 4 years 2 months |
| Gender | F | M |
| Ethnicity | Palestinian, first cousin parents | Ashkenazi Jewish |
| Gestational week | 41 | 39 |
| Birthweight | 3280 g (AGA) | 3500 g (AGA) |
| Apgar scores (1/5 min) | 7/9 | NA |
| Respiratory distress | + (tracheostomy) | + |
| Mechanical ventilation | + (continuous since 6 months) | Non-invasive mechanical ventilation at night (since 3 years 8 months); oxygen supplementation during the day |
| Mechanical insufflation-exsufflation device | + | + |
| Feeding difficulties | + (gastrostomy) | + (gastrostomy) |
| Recurrent aspirations; recurrent pneumonia | + | + |
| Poor head control | + | + |
| Axial hypotonia | + | + |
| Hyporeflexia | + | + |
| Hearing | Normal | Normal |
| Ophthalmological exam | Normal | Normal |
| Lactate | Normal | NA |
| Creatine kinase | Normal | Normal |
| Progressive microcephaly | + | + |
| MRI | Enlarged CSF spaces, small cerebellar hemispheres and vermis | Small cerebellum |
| Electrophysiology | Severe motor neuropathy (anterior horn cell disease) | NA |
| Other | − | Hand tremor, tongue fasciculations |
| AGTPBP1 variants | c.2342+2T>G [hom] | c.2351A>G; p.Tyr784Cys [het]; c.2998C>T; p.Arg1000Ter [het] |
ABR auditory brain response, AGA appropriate for gestational age, CMA chromosomal microarray, het heterozygous, hom homozygous, NA not available