| Mutation type |
Chromosome location |
Phenotype |
N° of mutations |
| AQP2 |
| Missense/nonsense |
12q12-q13 |
Autosomal recessive NDI |
40 |
| 12q12-q13 |
Autosomal dominant NDI |
3 |
| Splicing |
12q12-q13 |
Autosomal recessive NDI |
3 |
| Small deletions |
12q12-q13 |
Autosomal recessive NDI |
5 |
| 12q12-q13 |
Autosomal dominant NDI |
4 |
| Small insertions |
12q12-q13 |
Autosomal Dominant NDI |
1 |
| TOTAL |
|
56 |
| AVPR2 |
| Missense/nonsense |
Xq28 |
X-linked NDI |
151 |
| Splicing |
Xq28 |
X-linked NDI |
3 |
| Small deletions |
Xq28 |
X-linked NDI |
47 |
| Small insertions |
Xq28 |
X-linked NDI |
14 |
| Small indels |
Xq28 |
X-linked NDI |
5 |
| Gross deletions |
Xq28 |
X-linked NDI |
22 |
| Gross insertions |
Xq28 |
X-linked NDI |
1 |
| Complex rearrangements |
Xq28 |
X-linked NDI |
4 |
| TOTAL |
|
247 |
| L1CAM |
|
|
|
| Gross deletions |
Xq28 |
Hydrocephalus & |
1 |
| X-linked NDI |
| Complex rearrangements |
Xq28 |
Hydrocephalus & X-linked NDI |
1 |
| TOTAL |
|
2 |
|
