Table 1 Clinical Features of Subjects with FOXG1 mutations
From: Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation
| Â | Case 1 | Case 2 | Case 3 | Case 4 |
|---|---|---|---|---|
Mutation (AA change) | K287Qfs*168 | N232Y | E154Gfs*301 | L325Ffs*130 |
Age (m) | 20 | 54 | 12 | 24 |
Head circumference (cm) | 42 | 49 | 43 | 45.5 |
Rising head (m) | Y, 7Â m | Y, 2Â m | Y, 8Â m | Y, 2Â m |
Sitting (m) | N | Y, 12Â m | N | Y, 10Â m |
Walking | N | N, standing with acid at 24Â m | N | N |
Speech | N | N | N | N |
Regression | Y | N | N | N |
Stereotypic movements | Y, 12Â m | Y, 10Â m | Y, 3Â m | Y, 8 |
Limited functional hand use | Y | Y | Y | Y |
Bruxism | Y, 19Â m | Y, 12Â m | Y, 12Â m | N |
Hypotonia | Y | Y | Y | Y |
Feeding difficulties | N | Y | Y | Y |
Familial History | N | N | N | N |
Sz Onset (m) | Y, 10.5 | Y, 6 | Y, 10 | Y, 10.5 |
Sz types at Onset | Partial | Partial | Partial | Partial |
Sz with cyanosis | Y | Y | Y | Y |
Sleep disturbances | N | Y | Y | Y |
EEG abnormalities | Y | Y | N | Y |
Delayed myelination or hypomyelination | Y | N | N | N |
Hypoplastic corpus callosum | Y | Y | Y | Y |
Underdevelopment of frontal and temporal | Y | Y | Y | Y |