Table 1 Comparison of phenotypes in Dutch and Iranian families
Family A | Family B | ||||||
|---|---|---|---|---|---|---|---|
II-1 | II-2 | IV:1 | IV:6 | IV:3 | V-2 | V:1 | |
Age at last evaluation (years) | 14 | 8 | 36 | 41 | 34 | 9 | 8.5 |
Gender | M | M | M | M | M | F | F |
Ancestry | Dutch | Dutch | Iranian | Iranian | Iranian | Iranian | Iranian |
Consanguinity | No | No | Yes | Yes | Yes | Yes | Yes |
Weight (kg) | 34 (11 years) | 20 (5.4 years) | 62 | 60 | 57 | 40 | 32 |
Height (cm) | 143 (11 years) | 114.5 (5.4 years) | 165 | 155 | 160 | 142 | 133 |
Head circumference (cm) | 52 (11 years) | 51.4 (5.4 years) | Normal | Normal | Normal | Normal | Normal |
Cognition and ID | Mild | Mild | Moderate to Severe | Mild | Mild | Mild to Moderate | Mild to Moderate |
IQ level | 55 | 68 | Below 50 | ~50 | ~50 | ~50 | ~50 |
Speech | Dysphasia | Delayed and poor intelligibility | Only a few words | Delayed | Delayed | Incomprehensible but improving | Incomprehensible |
Motor function | Delayed | Delayed | Gait abnormality | Delayed | Delayed | Delayed | Delayed |
Epilepsy | No | No | Yes | Yes | Yes | Yes | Yes |
Muscular abnormality/CK level | No/slightly elevated | No/normal | No/normal | No/normal | No/normal | No/normal | No/Not done |
Muscle biopsy | Normal | Not done | Not done | Not done | Not done | Not done | Not done |
Vision examination | Normal | Normal | Normal | Normal | Normal | Normal | Normal |
Brain imaging | MRI: non-specific white matter changes that resolved later | Not done | Normal CT scan | Normal CT scan | Normal CT scan | MRI: non-specific white matter changes that resolved later | Not done |