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] |