Table 1 OTOF mutations including mutations from genetic screening of 65 NSRAN and NSRHL families (in bold) .
| Exon or IVS | Mutation | Codon | Controls, no. of chromosomes | Family | Diagnosis | Origin | Reference | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8 | 709C→T | R237X | 0/36 | NSRHL | UAE | 19 | ||||||||
| 8 IVS | IVS8−2A→G | 0/218 | NSRHL | India | 23 | |||||||||
| 15 | 1469C→A | P490Q | 0/220 | NSRHL | Turkey | 21 | ||||||||
| 15 | 1544T→C | I515T | 0/178, 0/220 | 3467 | TS‐NSRAN, NSRHL | USA, Turkey | 21 | |||||||
| 16 | 1651delG | 0/188 | NSRAN | USA | 2 | |||||||||
| 17 | 1886_1887insA | K629fs | 0/188 | 3466 | NSRAN | USA | ||||||||
| 18 IVS | IVS18 +1G→T | 0/188 | 3539 | NSRAN | USA | |||||||||
| 19 | 2122C→T | R708X | 0/100 | NSRHL | Spain | 3 | ||||||||
| 21 | 2348delG | G783fs | 0/184 | 3466 | NSRAN | USA | ||||||||
| 21 | 2381G→A | R794H | 0/160 | 53510 | NSRHL | USA | ||||||||
| 22 | 2485C→T | Q829X | 0/172, 0/400 | 3456, 3540 | NSRAN, NSRHL | UK, USA, Spain, Cuba | 3,20 | |||||||
| 24 IVS | IVS24 +1G→A | 0/240 | NSRHL | Druze/Israel | 18 | |||||||||
| 26 | 3032T→C | L1011P | 0/100 | NSRAN | Turkey | 4 | ||||||||
| 28 IVS | IVS28 −2A→C | 0/184 | 3456 | NSRAN | UK | |||||||||
| 36 | 4275G→A | W1425X | 0/100 | NSRAN | Spain | 3 | ||||||||
| 36 IVS | IVS36 +2T→G | 0/100 | NSRAN | Spain | 3 | |||||||||
| 37 | 4491T→A | Y1497X | 0/212 | NSRHL | Lebanon | 22 | ||||||||
| 39 IVS | IVS39 +1G→C | 0/188 | NSRAN | USA | 2 | |||||||||
| 44 | 5473C→G | P1825A | 0/200 | NSRHL | Spain | 20 | ||||||||
| 48 | 5860_5862delATC | I1954del | 0/100 | NSRAN | Spain | 3 | ||||||||
| 48 | 6014G→A | R1939Q | 0/188 | NSRAN | USA | 2 | ||||||||
| 48 | 6158C→G | P1987R | 0/188 | NSRAN | USA | 2 |
IVS, intervening sequences or intron.