Table 1.
Clinical features of cases with Asparagine synthestase deficiency
| Family A | Family B | Family C | Family D | Family E | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Cases | 1 | 1 | 2 | 1 | 2 | 3 | 1 | 2 | 3 | 1 |
| Consanguinity | Yes | No | Yes | No | Yes | |||||
| Ethnic origin | Iranian Jews | Iranian Jews | Bangladeshi | French Canadian | Emirati | |||||
| Gender | Male | Male | Female | Male | Male | Male | Male | Male | Male | Male |
| Age | 14Y | 14Y | 12Y | 4 M | 3 M | 6 M | 9D | 11 M | 12 M | 5Y |
| HC* at birth | 31.5 cm | 31 cm | 31 cm | 30.5 cm | 33 cm | 32 cm | 31.5 cm | 31 cm | 28.5 cm | 29.5 cm |
| Progressive microcephaly | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Epilepsy (Age of onset) | 1 M | 2 W | 3 W | ND | ND | ND | 4D | 9 M | 8D | 1stD |
| Psychomotor delay | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Spasticity | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Hyperreflexia | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Deceased | No | No | No | Yes | Yes | Yes | Yes | Yes | Yes | No |
| Brain MRI | Reduced cerebral volume | Reduced cerebral volume | Reduced cerebral volume, reduced size of Pons and simplified gyri | Reduced cerebral volume, reduced size of Pons and simplified gyri | Ventricular system dilatation, cerebral and cerebellar atrophy | |||||
| DNA change | Homo | Homo | Homo | Comp. Hetero | Homo | |||||
| C.1084 T>G | c.1084 T>G | c.1648 C>T | c.1648C>T/c.17C>A | c.1193A>C | ||||||
| Protein Change | F362V | F362V | R550C | A6E/R550C | Y398C | |||||
| (Ruzzo et al. 2013) | This study | |||||||||
Y, years; M, months; D, days; W, weeks; HC, head circumference; ND, Not determined; Homo, Homozygous; Comp. Hetero, Compound heterozygous