| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 2 |
c.778_785del8
| p.Leu260GlyfsX45 | Exon 7 |
Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia
| |
|
2
| 1 |
c.1939+1G>A
| p.? | Intron 15 |
Hydrocephalus, ?
| |
|
3
| 3 |
c.198-2A>T
| p.? | Intron 3 |
Hydrocephalus, ?
| Index case: > 16 yrs |
|
4
| 1 |
c.2140C>T
| p.Pro714Ser | Exon 17 |
(Dys)agenesis corpus callosum, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia
| > 14 yrs |
|
5
| 1 |
c.2885dupG
| p.Lys963GlnfsX41 | Exon 22 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus
| > 4 yrs |
|
6
| 3 |
c.1267C>T
| p.Gln423X | Exon 10 |
Hydrocephalus
| Index case died one day after birth. |
|
7
| 1 |
c.113C>T
| p.Thr38Met | Exon 3 |
Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia
| Translocation chromosome 16 |
|
8
| 1 |
c.938T>C
| p.Leu313Pro | Exon 8 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus
| Index case > 9 yrs |
|
9
| 2 |
c.1438G>A
| p.Gly480Arg | Exon 12 |
Hydrocephalus, ?
| Two terminated pregnacies (male) because of severe hydrocephalus |
|
10
| 1 |
c.559_594del36
| p.Met187_Val198del | Exon 6 |
Unknown
| |
|
11
| 1 |
c.39C>A
| p.= | Exon 1 |
Hydrocephalus
| Stillbirth |
|
12
| 10 |
c.550C>G
| p.Arg184Gly | Exon 6 |
Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia
| Died at the age of 6 yrs |
|
13
| 3 |
c.2885dupG
| p.Lys963GlnfsX41 | Exon 22 |
Hydrocephalus, ?
| |
|
14
| 9 |
c.76+5G>A
| p.? | Intron 1 |
Hydrocephalus, ?
| Linkage analysis informative |
|
15
| 1 |
c.397G>T
| p.Glu133X | Exon 4 |
Hydrocephalus, ?
| |
|
16
| 2 |
c.991+1G>A
| p.? | Intron 8 |
Adducted thumbs, Hydrocephalus, ?
| |
|
17
| 2 |
c.2934_2935delCA
| p.His978GlnfsX25 | Exon 22 |
Adducted thumbs, Hydrocephalus, ?
| Index case: stillbirth? Uncle died within a few months after birth |
|
18
| 7 |
c.2254G>A
| p.Val752Met | Exon 18 |
(Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia
| Index case: > 20 yrs |
|
19
| >1 |
c.536T>G
| p.Ile179Ser | Exon 6 |
Hydrocephalus, Spastic paraplegia
| |
|
20
| 2 |
c.1986G>A
| p.Trp662X | Exon 16 |
Hydrocephalus, ?
| Both died soon after birth |
|
21
| 5 |
c.1574G>A
| p.Arg525His | Exon 13 |
Spastic paraplegia
| |
|
22
| 3 |
c.1546+2T>A
| p.? | Intron 12 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| > 8 yrs |
|
23
| 2 |
c.2433C>G
| p.Tyr811X | Exon 19 |
Hydrocephalus, ?
| Index case died at birth. Stillbirth uncle |
|
24
| 3 |
c.3211_3213delAAC
| p.Asn1071del | Exon 24 |
Hydrocephalus, ?
| |
|
25
| 1 |
c.3531-12G>A
| p.? | Intron 26 |
Adducted thumbs, Mental retardation
| > 7 yrs |
|
26
| 2 |
c.2701C>T
| p.Arg901X | Exon 20 |
Adducted thumbs, Hydrocephalus
| Uncle died a few months after birth |
|
27
| 2 |
c.76+1G>A
| p.? | Intron 1 |
Adducted thumbs, Hydrocephalus, Hypotonia
| Deceased soon after birth |
|
28
| 2 |
c.76+5G>A
| p.? | Intron 1 |
Hydrocephalus, ?
| |
|
29
| 3 |
c.1940-1G>A
| p.? | Intron 15 |
Hydrocephalus
| |
|
30
| 1 |
c.78T>A
| p.Tyr26X | Exon 2 |
Adducted thumbs, Hydrocephalus
| |
|
31
| 1 |
c.992-32C>T
| p.? | Intron 8 |
Unknown
| |
|
32
| 4 |
c.2254G>A
| p.Val752Met | Exon 18 |
Hydrocephalus, ?
| Index case: >20 yrs |
|
33
| 2 |
c.3239T>A
| p.Leu1080Gln | Exon 24 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Index case: >10 yrs. Pat.2 died at the age of 2 yrs |
|
34
| 2 |
c.991+2T>C
| p.? | Intron 8 |
Hydrocephalus, ?
| |
|
35
| 4 |
c.761C>A
| p.Ala254Asp | Exon 7 |
Hydrocephalus, ?
| At least two boys died before birth. |
|
36
| 5 |
c.588_595del8
| p.Asn197SerfsX37 | Exon 6 |
Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation
| Died at the age of 2 yrs |
|
37
| 1 |
c.1977T>C
| p.= | Exon 16 |
Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia
| |
|
38
| 3 |
c.2344_2364dup
| p.Val782_Val788dup | Exon 18 |
Adducted thumbs, Mental retardation, Spastic paraplegia
| Index case: > 30 yrs. Brother died at the age of 5 yrs (severe hydrocephalus) |
|
39
| 2 |
c.1097G>A
| p.Trp366X | Exon 9 |
(Dys)agenesis corpus callosum, Hydrocephalus
| |
|
40
| 3 |
c.1107C>A
| p.Asn369Lys | Exon 9 |
(Dys)agenesis corpus callosum, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia
| Index case: >20 yrs |
|
41
| 1 |
c.1003T>C
| p.Trp335Arg | Exon 9 |
Unknown
| |
|
42
| 1 |
c.414G>A
| p.Trp138X | Exon 5 |
Hydrocephalus, ?
| |
|
43
| 1 |
c.1546G>A
| p.Asp516Asn | Exon 12 |
Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia
| > 3 yrs. |
|
44
| 1 |
c.1933A>T
| p.Ile645Phe | Exon 15 |
Unknown
| |
|
45
| 3 |
c.1547-2A>T
| p.? | Intron 12 |
Adducted thumbs, Hydrocephalus, ?
| Index case died at the age of 5 yrs. One brother died at birth. |
|
46
| 2 |
c.2278C>T
| p.Arg760X | Exon 18 |
Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia
| Died at the age og 6 yrs |
|
47
| 1 |
c.3772dupT
| p.X1257LeufsX96 | Exon 28 |
(Dys)agenesis corpus callosum, Mental retardation, Spastic paraplegia
| |
|
48
| 1 |
c.551G>A
| p.Arg184Gln | Exon 6 |
Hydrocephalus, ?
| |
|
49
| 6 |
c.[523+9_523+10delinsGA;523+12delC]
| p.? | Intron 5 |
Hydrocephalus, Mental retardation, Spastic paraplegia
| |
|
50
| 3 |
c.92-2A>G
| p.? | Intron 2 |
Hydrocephalus, ?
| |
|
51
| 1 |
c.325C>T
| p.Gln109X | Exon 4 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation
| |
|
52
| 1 |
c.113C>T
| p.Thr38Met | Exon 3 |
Adducted thumbs, Hydrocephalus, ?
| p.Gln 789X detected |
|
53
| 1 |
c.2365C>T
| p.Gln789X | exon 18 |
Adducted thumbs, Hydrocephalus, ?
| |
|
54
| 1 |
c.2215delC
| p.Arg739GlyfsX112 | Exon 18 |
Adducted thumbs, Hydrocephalus, Hypotonia
| Died before the age of 2 yrs |
|
55
| 7 |
c.3191C>A
| p.Ser1064X | Exon 24 |
Adducted thumbs, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia
| Index case: >15 yrs |
|
56
| 4 |
c.2260T>A
| p.Trp754Arg | Exon 18 |
Hydrocephalus, ?
| Index case: > 15 yrs |
|
57
| 4 |
c.110T>A
| p.Ile37Asn | Exon 3 |
Hydrocephalus, ?
| |
|
58
| 1 |
c.400+5G>C
| p.Phe108CysfsX92 | Intron 4 |
Adducted thumbs, Hydrocephalus
| |
|
59
| 2 |
c.2919delC
| p.Glu974AsnfsX7 | Exon 22 |
Unknown
| Index case died at very young age |
|
60
| 1 |
c.1546G>T
| p.Asp516Tyr | Exon 12 |
Unknown
| > 15 yrs |
|
61
| 1 |
c.2T>C
| p.Met1? | Exon 1 |
?
| |
|
62
| 1 |
c.1880C>T
| p.Thr627Met | Exon 15 |
Hydrocephalus, ?
| |
|
63
| 2 |
c.3166+2T>A
| p.? | Intron 23 |
Hydrocephalus
| Index case died soon after birth |
|
64
| 2 |
c.645C>T
| p.= | Exon 6 |
Adducted thumbs, Hydrocephalus
| |
|
65
| 1 |
c.3531-1G>A
| p.? | Intron 26 |
Hydrocephalus, ?
| |
|
66
| 2 |
c.2254G>A
| p.Val752Met | Exon 18 |
Hydrocephalus, ?
| Index case: terminated pregnacy (male) because of severe hydrocephalus |
|
67
| 1 |
c.1268-1G>A
| p.? | Intron 10 |
Adducted thumbs, Hydrocephalus, ?
| Stillbirth |
|
68
| 1 |
c.826T>C
| p.Trp276Arg | Exon 8 |
Adducted thumbs, Hydrocephalus
| |
|
69
| 1 |
c.2673C>A
| p.Tyr891X | Exon 20 |
(Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia
| |
|
70
| 3 |
c.516G>A
| p.Met172Ile | Exon 5 |
Hydrocephalus, Mental retardation, Spastic paraplegia
| Variation detected in 2 affected brothers and 1 affected sister. All >10 yrs |