| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 2 |
c.79G>T
| p.Glu27X | Exon 2 |
Adducted thumbs, Hydrocephalus, Mental retardation
| |
|
2
| 2 |
c.197+5G>C
| p.? | Intron 3 |
Hydrocephalus
| Oldest mutation carrier: 5 yrs |
|
3
| 1 |
c.591T>C
| p.= | Exon 6 |
Mental retardation
| |
|
4
| 1 |
c.806+1G>C
| p.? | Intron 7 |
Adducted thumbs, Hydrocephalus, Mental retardation
| 4 yrs |
|
5
| 2 |
c.1005G>T
| p.Trp335Cys | Exon 9 |
Hydrocephalus
| Oldest mutation carrier: 0 yr |
|
6
| 1 |
c.1223A>T
| p.Asn408Ile | Exon 10 |
Hydrocephalus
| |
|
7
| 1 |
c.1262T>A
| p.Val421Asp | Exon 10 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus
| 1 yr |
|
8
| >2 |
c.84dupA
| p.His29ThrfsX24 | Exon 2 |
Unknown
| |
|
9
| >1 |
c.88C>A
| p.His30Asn | Exon 2 |
Adducted thumbs, Hydrocephalus, Mental retardation
| p.Glu27X was also found in this patient |
|
10
| ? |
c.197+17G>A
| p.? | Intron 3 |
Hydrocephalus
| |
|
11
| >2 |
c.198-2A>T
| p.? | Intron 3 |
Adducted thumbs, Hydrocephalus
| Oldest mutation carrier: 16 yrs |
|
12
| >2 |
c.316C>T
| p.Gln106X | Exon 4 |
Adducted thumbs, Hydrocephalus
| Oldest mutation carrier: 0 yr |
|
13
| Unknown |
c.523+12C>T
| none | Intron 5 |
Adducted thumbs, Hydrocephalus
| |
|
14
| Unknown |
c.523+12C>T
| none | Intron 5 |
Adducted thumbs, Hydrocephalus
| |
|
15
| Unknown |
c.524-12T>A
| none? | Intron 5 |
Adducted thumbs, Hydrocephalus
| |
|
16
| 1 |
c.524-1G>A
| p.? | Intron 5 |
Adducted thumbs, Hydrocephalus
| 1 yr |
|
17
| >2 |
c.550C>T
| p.Arg184Trp | Exon 6 |
Hydrocephalus
| Oldest mutation carrier: 1 yr |
|
18
| >2 |
c.614_615delinsAG
| p.Ser205X | Exon 6 |
Hydrocephalus
| 0 yr |
|
19
| >2 |
c.666delG
| p.Glu223AsnfsX13 | Exon 6 |
Hydrocephalus
| Oldest mutation carrier: 2 yr |
|
20
| 1 |
c.855C>T
| p.= | Exon 8 |
Hydrocephalus
| |
|
21
| 2 |
c.991+2T>C
| p.? | Intron 8 |
Adducted thumbs, Hydrocephalus, Mental retardation
| Index case: >10 yrs |
|
22
| >2 |
c.992-1G>A
| p.? | Intron 8 |
Adducted thumbs, Hydrocephalus
| |
|
23
| 1 |
c.1108G>A
| p.Gly370Arg | Exon 9 |
Unknown
| Hydrocephalus? |
|
24
| 1 |
c.1267C>T
| p.Gln423X | Exon 10 |
Hydrocephalus
| 0 yr |
|
25
| 1 |
c.1490G>A
| p.Cys497Tyr | Exon 12 |
Hydrocephalus
| Died shortly after birth |
|
26
| 2 |
c.2071G>A
| p.Ala691Thr | Exon 16 |
Adducted thumbs, Hydrocephalus
| Oldest mutation carrier: 0 yr |
|
27
| >2 |
c.2252G>C
| p.Arg751Pro | Exon 18 |
Hydrocephalus
| Oldest mutation carrier: 0 yr |
|
28
| 1 |
c.1672C>T
| p.Arg558X | Exon 13 |
Hydrocephalus
| 0 yr |
|
29
| >2 |
c.1786G>T
| p.Glu596X | Exon 14 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Oldest mutation carrier: 4 yrs |
|
30
| 1 |
c.2746G>T
| p.Gly916X | Exon 20 |
Hydrocephalus
| 0 yr |
|
31
| >2 |
c.3496C->T
| p.Arg1166X | Exon 26 |
Adducted thumbs, Hydrocephalus, Mental retardation
| Oldest mutation carrier: 40 yrs |
|
32
| 2 |
c.1666delG
| p.Asp556Thrfs16 | Exon 13 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Oldest mutation carrier: 6 yrs |
|
33
| 1 |
c.1979 del A
| p.Lys661AsnfsX32 | Exon 16 |
Adducted thumbs, Hydrocephalus
| 0 yr |
|
34
| >2 |
c.3165_3166delAG
| p.Glu1056ArgfsX27 | Exon 23 |
Adducted thumbs, Hydrocephalus
| Oldest mutation carrier: 0 yr |
|
35
| 1 |
c.1546+2T>C
| p.? | Intron 12 |
Hydrocephalus, Mental retardation
| 2 yrs |
|
36
| >2 |
c.2209-2A>G
| p.? | Intron 17 |
Adducted thumbs, Hydrocephalus
| Oldest mutation carrier: 0 yr |
|
37
| >2 |
c.2431+2_2431+3delTG
| p.? | Intron 18 |
Adducted thumbs, Hydrocephalus
| Oldest mutation carrier: 0 yr |
|
38
| 1 |
c.3530+3A>T
| p.? | Intron 26 |
Adducted thumbs, Hydrocephalus
| 0 yr |
|
39
| Unknown |
c.1704-17_1704-20delTCTG
| none | Intron 13 |
Hydrocephalus
| |
|
40
| 1 |
c.3716G>A
| p.Gly1239Glu | Exon 28 |
Hydrocephalus
| Died shortly after birth. |
|
41
| >2 |
c.2215C>T
| p.Arg739Trp | Exon 18 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| p.Glu596X was also found in this patient |
|
42
| 1 |
c.2313 del C
| p.Phe772SerfsX79 | Exon 18 |
Unknown
| 11 yrs |
|
43
| 1 |
c.2892delG
| p.Gln965AsnfsX16 | Exon 22 |
Adducted thumbs, Hydrocephalus
| 0 yr |
|
44
| >2 |
c.3452_3455del4
| p.Tyr1151X | Exon 25 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus
| Age of oldest mutation carrier in the family: 0 yr |