| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 2 |
c.656T>C
| p.Ile219Thr | Exon 6 |
Hydrocephalus, ?
| HSAS 2/2 |
|
2
| 3 |
c.1156C>T
| p.Arg386Cys | Exon 10 |
Hydrocephalus, ?
| HSAS 3/3 |
|
3
| 2 |
c.366delC
| p.Ala123ProfsX21 | Exon 4 |
Hydrocephalus, ?
| HSAS 2/2 |
|
4
| 1 |
c.400+5G>C
| p.Phe108CysfsX92 | Intron 4 |
Hydrocephalus, ?
| |
|
5
| 5 |
c.1003T>C
| p.Trp335Arg | Exon 9 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Hirschsprung disease: 1/5 |
|
6
| 6 |
c.1417C>T
| p.Arg473Cys | Exon 12 |
Hydrocephalus, ?
| Index case HSAS; MASA 5/6 |
|
7
| 6 |
c.2572C>T
| p.Gln858X | Exon 20 |
Hydrocephalus, ?
| HSAS 6/6 |
|
8
| 3 |
c.2872+1G>A
| p.? | Intron 21 |
MASA syndrome
| Index case MASA; HSAS 2/3 |
|
9
| 1 |
c.3671C>T
| p.Ser1224Leu | Exon 28 |
Hydrocephalus, ?
| |
|
10
| 1 |
c.3323-30G>A
| none | Intron 24 |
Hydrocephalus, ?
| |