Diagnostic clinical, biochemical, and sequencing features of index cases where mutations in ATP6V0A4 were found. Residues numbered according to the sequence in Genbank NM_020632
| Mutation | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Kindred/sex | Age | Origin | Age at dx | Consang? | RTA associated SNHL? | DNA | Protein | Na | K | Cl | HCO3− | Arterial pH | Urine pH |
| Consang = consanguineous parental union; dx = diagnosis; * = additional affected with mutation; NA = not available or not tested; fs = frameshift; del = deleted; ins = inserted; SEM = standard error of mean. | |||||||||||||
| †Hearing impairment not definitely attributable to dRTA. | |||||||||||||
| ‡Standard criteria for hearing loss.9 | |||||||||||||
| §Effect of splice acceptor loss unknown. | |||||||||||||
| 76/F | Died 6 mth | Turkey | 3 mth | Y | NA | 1072C>T | Q358X | 143 | 3.5 | 125 | 7.3 | 7.12 | 7.0 |
| 206/M | 10 y | Saudi | 2 mth | Y | N | 2257C>T | Q753X | NA | NA | NA | 16.0 | NA | 7.6 |
| 217/F | NA | Saudi | NA | Y | NA | 2257C>T | Q753X | NA | NA | NA | NA | NA | NA |
| *228/F | 17 y | Sicily | 1 y | N | ?† | [2521T>C + 2332delG] | X841Q + V778fsX788 | 141 | 3.1 | 110 | 17.8 | 7.4 | 7.0 |
| *213/F | 6 y | Iran | 1 mth | Y | N | 338delA | N113fsX117 | 140 | 2.8 | 118 | 8.6 | 7.14 | 5.6 |
| 209/F | 3 y | Lebanon | 11 mth | Y | N | 709–711delAAG | K237del | 139 | 2.1 | 118 | 7.0 | 7.13 | 8.0 |
| 83/F | 15 y | Canada | 2 mth | Y | ? | IVS6-1G>A | ?§ | 131 | 3.7 | 114 | 7.8 | 7.16 | 7.0 |
| 220/M | 10 y | Turkey | 1 mth | Y | Mild‡ | IVS12-2A>C | ? | 147 | 2.2 | 110 | 11.5 | 7.23 | 7.0 |
| 221/F | 2 y | Turkey | 4 mth | Y | N | IVS12-2A>C | ? | 142 | 2.8 | 115 | 16.0 | 7.30 | 7.5 |
| 25/F | 18 y | Pakistan | 2 mth | Y | Moderate | [IVS17+1G>A] | Exon 17 skip?19 | 136 | 2.4 | 114 | 15.0 | 7.31 | NA |
| *60/M | 12 y | Turkey | 3 mth | Y | NA | 1346G>A | R449H | 145 | 2.5 | 128 | NA | NA | 7.5 |
| 226/F | 4 y | Turkey | Birth | Y | N | 1346G>A | R449H | 141 | 2.3 | 111 | 10.0 | 7.2 | 7.0 |
| Sporadics | |||||||||||||
| 53/M | 13 y | Turkey | 3 mth | N | Mild | [580C>T + 243–244insTC] | R194X + E82fsX87 | 137 | 3.4 | 112 | 9.2 | 7.21 | 7.1 |
| 72/M | 34 y | Spain | 1 mth | N | Moderate | 1506T>A | Y502X | 142 | 3.6 | 120 | 11.0 | 7.99 | 7.3 |
| 67/M | 15 y | Spain | 18 d | N | N | [IVS17+2–+3insT] | Exon 17 skip? | 139 | 4.4 | 113 | 16.2 | 7.37 | 7.2 |
| 73/M | 10 y | Spain | 1 mth | N | N | [1506T>A + IVS17+2–+3insT] | Y502X + exon 17 skip? | 135 | 2.5 | 116 | 16.1 | 7.32 | 7.2 |
| 74/F | 9 y | Spain | 1 mth | N | N | [1506T>A + IVS17+2–+3insT] | Y502X + exon 17 skip? | 136 | 3.3 | 122 | 4.0 | 6.72 | 7.4 |
| 66/M | 26 y | Spain | 8 mth | N | N | 306–307insA | L103fsX139 | 138 | 4.4 | 126 | 12.8 | 7.21 | 7.3 |
| 65/M | 5 y | Spain | 3 mth | N | N | 1185delC | P395fsX407 | 140 | 3.4 | 118 | 10.0 | 7.12 | 7.4 |
| 3/M | 10 y | Turkey | 6 wk | N | N | 1832–1833delAGinsT | S611fsX648 | 140 | 2.2 | 125 | 9.7 | 7.22 | 6.5 |
| 41/F | 7 y | Turkey | 6 wk | N | N | IVS12-2A>C | ? | 141 | 2.5 | 127 | 8.1 | 7.08 | 7.5 |
| 68/M | 30 y | Spain | 1 mth | N | N | [524G>A + IVS17+2–+3insT] | G175D + exon 17 skip? | 142 | 4.3 | 116 | 10.7 | 7.19 | 7.0 |
| 70/M | 26 y | Spain | 2 mth | N | Severe | 2420G>A | R807Q | 138 | 1.3 | 112 | 5.3 | 7.14 | 7.5 |
| Mean | 140 | 3.0 | 118 | 11.0 | 7.23 | 7.2 | |||||||
| SEM | 1 | 0.2 | 1 | 0.9 | 0.05 | 0.1 | |||||||