| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 15 |
c.551G>A
| p.Arg184Gln | Exon 6 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Died before the age of 1 yr: 10/15 |
|
2
| 5 |
c.630C>G
| p.His210Gln | Exon 6 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Hydrocephalus 1/5. Died before the age of 1yr:0/5 |
|
3
| 3 |
c.1354G>A
| p.Gly452Arg | Exon 11 |
Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia
| Died < 1yr 2/3. |
|
4
| 4 |
c.1453C>T
| p.Arg485X | Exon 12 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation
| Died < 1 yr: 4/4 |
|
5
| 1 |
c.2885delG
| p.Gly962AlafsX19 | Exon 22 |
Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia
| >1 yr. Family H24 in ref |
|
6
| 6 |
c.3489_3490delTG
| p.Glu1164GlyfsX7 | Exon 26 |
Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia
| Died <1 yr: 0/6 |
|
7
| 15 |
c.2721C>T
| p.= | Exon 20 |
Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia
| In this family a disease-causing mutation (p.Arg184Gln) was detected in addition to the silent mutation |