Table 2.
Genetic results of the 25 Tunisian patients with dRTA, according to family history and presence of sensorineural hearing loss (SNHL)
| Case | Origin | Consanguinity | SNHL | Gene | Mutation | Protein |
|---|---|---|---|---|---|---|
| 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*) |
Otherwise stated, mutations are present in homozygosis.
cDNA and protein numbering according to Ensembl identifiers: ATP6V1B1: ENSG00000116039, and ATP6V0A4: ENSG00000105929.
Abbreviations: SNHL (sensorineural hearing loss), NA (Not available).