Table 3. Summary of mutation in the NHS gene.
|
Reference |
Family |
Exon |
Genomic mutation |
Predicted protein change |
| [12] |
1 |
6 |
c.2387insC |
p.S797 fsX |
| 2 |
6 |
c.3459delC |
p.L1154fsX28 |
|
| 3* |
5 |
c.1117C>T |
P.R378X |
|
| 4 |
3 |
c.718insG |
p.E240fsX36 |
|
| 5** |
1 |
c.400delC |
p.R134fsX61 |
|
| 6 |
- |
No mutation |
||
| [13] |
1 |
6 |
c.3738-3739delTG |
p.C1246-A1247fsX15 |
| 2** |
1 |
c.400delC |
p.R134fsX61 |
|
| 3 |
6 |
c.2687delA |
p.Q896fsX110 |
|
| CRX |
- |
No mutation |
||
| [14] |
1 |
1 |
C.1150T |
p.Q39X |
| [15] |
P8598 |
IVS 3-2 |
c.853-2 A>G |
Splice site change |
| P20079 |
6 |
c.2601insG |
p.K868E fsX5 |
|
| P21540* |
5 |
c.1117C>T |
P.R378X |
|
|
P24486 |
6 |
c.2635C>T |
p.R879X |
|
| This study | XL 39 |
6 |
c.3624C>A |
P.C1208X |
| XL 116 |
6 |
c.4129C>T |
P.Q1358X |
|
| XL 11 |
5 |
c.1108C>T |
P.Q370X |
|
| XL 51 |
- |
No mutation |
||
| XL 56 | - | No mutation |