Table 2 Genetic results of the 25 Tunisian patients with dRTA, according to family history and presence of sensorineural hearing loss (SNHL)

1.1

Monastir

Yes

Yes

ATP6V1B1

c.175-1G > C

p.?

2.1

Monastir

Yes

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

3.1

Monastir

Yes

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

3.2

Monastir

Yes

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

4.1

Monastir

Yes

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

5.1

Monastir

Yes

NA

ATP6V1B1

c.1102G > A

p.Glu368Lys (p.E368K)

5.2

Monastir

Yes

Yes

ATP6V1B1

c.1102G > A

p.Glu368Lys (p.E368K)

6.1

Monastir

No

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

7.1

Monastir

Yes

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

7.2

Monastir

Yes

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

8.1

Monastir

Yes

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

9.1

Kairouan

No

NA

ATP6V1B1

c.175-1G > C

p.?

10.1

Kairouan

Yes

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

10.2

Kairouan

Yes

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

11.1

Kairouan

Yes

NA

ATP6V1B1

c.175-1G > C

p.?

12.1

Gabes

No

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

13.1

Gabes

Yes

Yes

ATP6V1B1

c.1155dupC

p.Ile386Hisfs*56 (p.I386Hfs*56)

14.1

Mahdia

Yes

No

ATP6V0A4

c.1221delG

p.Met408Cysfs*10 (p.M408Cfs*10)

15.1

Kairouan

Yes

NA

ATP6V0A4

c.16C > T

p.Arg6* (p.R6*)

16.1

Kairouan

Yes

Yes

ATP6V0A4

c.2035G > T

p.Asp679Tyr (p.D679Y) heterozygous

16.2

Kairouan

Yes

Yes

ATP6V0A4

c.2035G > T

p.Asp679Tyr (p.D679Y) heterozygous

17.1

Kairouan

Yes

No

ATP6V0A4

c.16C > T

p.Arg6* (p.R6*)

18.1

Monastir

Yes

No

ATP6V0A4

c.16C > T

p.Arg6* (p.R6*)

19.1

Monastir

No

NA

ATP6V0A4

c.1739 T > C

p.Met580Thr (p.M580T) heterozygous

20.1

Kairouan

Yes

No

ATP6V0A4

c.16C > T

p.Arg6* (p.R6*)