Table 3.
Geographic distribution of previously reported dRTA populations carrying the ATP6V1B1 and ATP6V0A4 gene mutations described in this study
| Gene | Mutation | Origin | Number of families | Reference |
|---|---|---|---|---|
|
ATP6V1B1
|
c.1155dupC |
Sweden |
1 |
[7] |
| Spain |
2 |
|||
| Saudi Arabia |
1 |
[9] |
||
| Sicily |
1 |
|||
| Morocco |
1 |
|||
| Tunisia |
1 |
[11] |
||
| Algeria |
5 |
|||
| Tunisia |
9 |
Current study |
||
| c.175-1G > C |
Tunisia |
1 |
[11] |
|
| Algeria |
2 |
|||
| Tunisia |
3 |
Current study |
||
| c.1102G > A |
Tunisia |
1 |
Current study |
|
| ATP6V0A4 | c.16C > T |
Pakistan |
1 |
[11] |
| Tunisia |
4 |
Current study |
||
| c.1739 T > C |
Turkey |
1 |
[8] |
|
| Tunisia |
1 |
Current study |
||
| c.2035G > T |
Pakistan |
1 |
[11] |
|
| Tunisia |
1 |
Current study |
||
| c.1221delG | Tunisia | 1 | Current study and [23] |