| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 1 |
c.1268-2A>T
| p.? | Intron 10 |
Hydrocephalus
| |
|
2
| >1 |
c.807-6G>A
| p.Phe269LeufsX39 | Intron 7 |
Hydrocephalus, ?
| Family K8625 |
|
3
| >2 |
c.807-6G>A
| p.Phe269LeufsX39 | Intron 7 |
MASA syndrome
| Family K8595 |
|
4
| 2 |
c.1379+5G>A
| p.? | Intron 11 |
Hydrocephalus
| Family K8385 |
|
5
| 2 |
c.2072C>A
| p.Ala691Asp | Exon 16 |
MASA syndrome
| Two brothers both MASA |
|
6
| >2 |
c.2092G>A
| p.Gly698Arg | Exon 16 |
Hydrocephalus, ?
| The mutation segregates with the disease |
|
7
| >2 |
c.2804T>C
| p.Leu935Pro | Exon 21 |
Hydrocephalus, ?
| Family 8350 |