Summary of the previously reported families with X linked inheritance and similar clinical findings
| Present report | ||||||||
|---|---|---|---|---|---|---|---|---|
| Renier et al6 | Chitayat et al21 | Illarioshkin et al,8 Bertini et al22 | Christianson et al23 | Pettigrew et al24 | Wakeling et al25 | Family A | Family B | |
| CH: cerebellar hypoplasia. DWV: Dandy-Walker variant. HY: hydrocephalus. CA: cerebellar atrophy. BGD: basal ganglia disease. NA: not available. U: only reported in one affected subject. | ||||||||
| Number of affected males | 3 | 2 | 9 (7 and 2) | 16 | 9 | 3 | 4 | 1 |
| Mental retardation | + | + | − | ++ | ++ | NA | + | + |
| Cerebellar ataxia | − | − | + | + | + | NA | − | − |
| Other neurological symptoms | Abnormal eye movements | None | External ophthalmoplegia | Ophthalmoplegia Epilepsy | Seizures Spasticity | NA | None | None |
| MRI findings | CH, HY | CH | CA | CA | CH, BGD | DWV | CH | CH |
| Macrocephaly | − | + | U | − | + | U | + | + |
| Tall stature | U | + | U | − | − | NA | + | + |
| Facial dysmorphism | − | + | − | + | + | NA | + | + |
| Linkage data | NA | NA | Xp11.21-Xq24 | Xq24-Xq27.3 | Xq25-Xq27 | NA | OPHN1 mutation | OPHN1 mutation |