Table 1.
Clinical features of families 1, 2 & 3
| FAMILY | 1 | 2 | 3 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Individual | IV-2 | IV-4 | IV-3 | IV-4 | IV-5 | IV-6 | IV-7 | IV-1 | IV-2 |
| Genotype | HEXB HOM c.445 + 1G > T | N/K | MBOAT7 HOM c.758_778del | MBOAT7 HOM c.758_778del | N/K | MBOAT7 HOM c.758_778del | MBOAT7 HOM c.758_778del | MBOAT7 HOM c.758_778del | MBOAT7 HOM c.758_778del |
| Sex | F | M | M | M | F | F | M | M | F |
| Age at assessment (years) | 20 m | Not assessed (deceased at 18 m) | 20 | 18 | 16 | 19 | 9 | 8y 1 m | 12y |
| Gestation weeks | FT | N/K | FT | FT | N/K | N/K | FT | FT | FT |
| Birth weight kg (SD) | 3.0 (−0.9) | N/K | 3.0 (−1.16) | 2.9 (− 1.38) | N/K | N/K | 2.8 | 1.5 (−4.6) | 1.8 (−3.86) |
| Height cm (SD) | 89 (+ 2.27) | N/K | 172.5 (−0.69) | 168.8 (−1.2) | N/K | N/K | 106.7 (−4.58) | 106.7 (−3.93) | 127 (−3.2) |
| Weight kg (SD) | 8.5 (−2.67) | N/K | 55 (−1.95) | 68 (+ 0.09) | N/K | N/K | 30 (+ 0.34) | N/K | N/K |
| Head circumference cm (SD) | 51 (+ 2.2) | N/K | 50 (−2.8) | 55.5 (−1.03) | 53.6 (− 1.25) | 55.5 (−0.01) | 54 (− 1.9) | 49 (−3.11) | 52 (− 1.81) |
| Development | |||||||||
| Intellectual disability | + | + | Mod-Severe | Severe | Mod-Severe | Mod-Severe | Mod-Severe | Mod-Severe | Mod-Severe |
| Speech delay/impairment | Non-verbal | + | Non-verbal | Non-verbal | + | + | Non-verbal | Non-verbal | Non-verbal |
| Developmental delay | + | + | + | + | + | + | + | + | + |
| Age walking | N/A | N/A | 3.5y | 4y | N/A | N/A | 3.5y | >4y | 4y |
| Neurological features | |||||||||
| Macrocephaly | + | N/K | – | – | – | – | – | – | – |
| Microcephaly | – | N/K | + | – | – | – | – | + | + |
| Seizures |
Onset 7 m GTCS Regression |
+ |
Onset 1.5y Focal/ multifocal infantile |
Onset 2.5y Focal/ multifocal infantile |
Febrile seizures in infancy | Febrile seizures in infancy | Febrile seizures in infancy |
Onset in infancy GTCS |
Onset in infancy GTCS |
| Hypotonia | + | N/K | + | + | + | + | N/K | + | + |
| Behavioural problems | N/A | N/A | – | Aggressive episodes | – | – | – |
Aggressive episodes Hyperactivity |
Aggressive episodes |
| Other features |
Strabismus Nystagmus Visual loss Hearing loss Hepatosplenomegaly |
Deceased aged 1.5 years | Unable to walk | Unable to walk | Reduced physical activity level | ||||
F female, M male, HOM homozygous, FT full-term, N/A Not applicable, N/K not known, m months, y years, +; feature present, −; feature absent, GTCS generalised tonic-clonic seizure