Table 1 Genotype-phenotype correlation of DFNB77 confirmed by segregation analysis
Genotype | Ethnicity | Severity of HL | Progression of HL | Reference |
|---|---|---|---|---|
c.71delT/c.71delT | Turkish | Severe or profound | NA | [13] |
c.442A > T/c.4217C > T | NA | NA | NA | [19] |
c.1588G > T/c.1588G > T | Qatary | Severe to profound | Progressive | [12] |
c.1618dup/c.1730 T > G | Dutch | Moderate to severe | Stable to progressive | [20] |
c.1751C > T/c.5815G > A | Chinese | Severe | Progressive | [2] |
c.1828G > T/c.2641G > A | Dutch | Mild | Stable | [20] |
c.1904 T > C/c.4678 T > C | Dutch | Mild | Stable to progressive | [20] |
c.2008C > T/c.2008C > T | Iranian | Mild to profound | Progressive | [7] |
c.2696G > C/c.3834G > C | Dutch | Moderate | Stable | [20] |
c.2696G > C/c.5934C > T | Dutch | Mild | NA | [20] |
c.2863G > T/c.2863G > T | Turkish | NA | NA | [10] |
c.3061C > T/c.5885C > T | Indian | Severe | Stable | [20] |
c.3061 + 1G > A/c.6353G > A | Dutch | Moderate | NA | [20] |
c.3076G > T/c.4375 + 1G > T | Japanese | Profound | Stable | [17] |
c.3169C > T/c.6353G > A | Dutch | Severe | Stable | [20] |
c.3371G > A/c.3979 T > A | Cameroonian | Profound | NA | [15] |
c.3748 + 1G > C/c.6353G > A | Dutch | Moderate to severe | Stable to progressive | [20] |
c.4212 + 1G > A/c.4212 + 1G > A | Japanese | Profound | Stable | [14] |
c.4212 + 1G > A/c.5674G > T | Japanese | Mild to profound | Progressive | [16] |
c.4480C > T/c.4480C > T | Turkish | NA | NA | [10] |
c.4480C > T/c.5869G > T | Japanese | Moderate to severe | Stable | [14] |
c.4623C > G/c.5545G > A | Czech | Severe | NA | [22] |
c.4714C > T/c.4714C > T | Ashkenazi Jewish | Severe to profound | NA | [9] |
c.5894dupG/c.5894dupG | Arab | Profound | NA | [21] |
c.5948C > T/c.5948C > T | Chinese | Profound | Stable | This study |