Table 2.
List of identified mutations
| Family ID | Family member | Age | Affection status | Genotype | Gene | Chromosome location [GRCh37.p13] | Amino acid alternation | Reference |
|---|---|---|---|---|---|---|---|---|
| Family 1 | IV1 | 9 | Affected | AA |
CDH23 |
NC_000010.10:g.73548784C>T Exon43 |
p.(Glu1970Lys) | This study |
| III1 | 44 | Normal hearing | GA | |||||
| III2 | 40 | Normal hearing | GA | |||||
| Family 2 | II2 | 21 | Affected | AA |
CDH23 |
NC_000010.10:g.73468963G>T Exon26 |
p.(Ala1072Asp) | 26 |
| I1 | 60 | Normal hearing | CA | |||||
| I2 | 58 | Normal hearing | CA | |||||
| II1 | 30 | Normal hearing | CC | |||||
| Family 3 | II4 | 34 | Affected | GG |
GIPC3 |
NC_000019.9:g.3586512T>C Exon2 |
p.(Asn82Ser) | This study |
| I4 | 60 | Normal hearing | AG | |||||
| II6 | 33 | Normal hearing | AA | |||||
| II7 | 32 | Normal hearing | AG | |||||
| Family 4 | IV1 | 19 | Affected | CT |
MYO7A |
NC_000011.9:g.76873190G>A Exon13 |
p.(Phe456Phe) | This study |
| III1 | 48 | Normal hearing | CC | |||||
| III2 | 38 | Normal hearing | CT | |||||
| IV2 | 14 | Normal hearing | CT | |||||
| IV1 | 19 | Affected | AG |
MYO7A |
NC_000011.9:g.76886445T>C Exon18 |
p.(Met708Val) | This study | |
| III1 | 48 | Normal hearing | AG | |||||
| III2 | 38 | Normal hearing | AA | |||||
| IV2 | 14 | Normal hearing | AA | |||||
| Family 5 | IV6 | 32 | Affected | InsT/ InsT |
TECTA |
NC_000011.9:g120973423_120973424insA (NM_005422.2: c.49_50insT) Exon1 |
p. (Leu17Leufs*19) | This study |
| III1 | 57 | Normal hearing | N/ InsT | |||||
| III2 | 60 | Normal hearing | N/ InsT | |||||
| IV1 | 44 | Normal hearing | N/N | |||||
| IV2 | 42 | Normal hearing | N/N | |||||
| IV4 | 40 | Affected | InsT/ InsT | |||||
| IV5 | 38 | Affected | InsT/ InsT | |||||
| IV7 | 37 | Normal hearing | N/ InsT | |||||
| Family 6 | IV5 | 15 | Affected | AA |
OTOF |
NG_009937.1(NM_194248.3): c.1392+1G>A Intron13 |
– | 39 |
| III5 | 60 | Normal hearing | GA | |||||
| III7 | 50 | Normal hearing | GA | |||||
| III8 | 48 | Normal hearing | GA | |||||
| IV1 | 34 | Normal hearing | GA | |||||
| IV2 | 31 | Normal hearing | GG | |||||
| Family 7 | IV1 | 7 | Affected | AA |
MYO7A |
NC_000011.9:g.76867722C>T Exon6 |
p.(Gly163Arg) | 31 |
| II2 | 50 | Normal hearing | GA | |||||
| III1 | 25 | Normal hearing | GA | |||||
| III2 | 28 | Normal hearing | GA | |||||
| III3 | 31 | Normal hearing | GA | |||||
| III4 | 37 | Normal hearing | GG | |||||
| III5 | 34 | Normal hearing | GA | |||||
| Family 8 | III1 | 32 | Affected | TT |
TRIOBP |
NC_000022.10:g.38121765G>A Exon7 |
p.(Arg1068*) | 34 |
| II1 | 38 | Normal hearing | CC | |||||
| II2 | 56 | Normal hearing | CT | |||||
| II3 | 49 | Normal hearing | CT | |||||
| Family 9 | III2 | 16 | Affected | AA |
GIPC3 |
NC_000019.9:g. 3585717G>T Exon1 |
p.(Thr41Lys) | 29 |
| II3 | 41 | Normal hearing | CA | |||||
| II4 | 44 | Normal hearing | CA | |||||
| III1 | 7 | Affected | AA |