Table 2.
Genotype and phenotype of four individuals with ANSD in this study.
| Subjects | Genotype | ABR | DPOAE | CM | ASSR | |
|---|---|---|---|---|---|---|
| Right ear | Light ear | |||||
| 1-II-2 | c.[2688del];[2688del] | Absent | Bil absent | Present | Profound | Profound |
| 1-II-3 | c.[2688del];[2688del] | Absent | Bil present | Present | Profound | Profound |
| 2-II-1 | c.[4960G>A];[1469C>G] | Absent | Bil present | Present | Severe | Severe |
| 3-II-4 | c.[2675A>G];[2977_2978del] | Absent | Bil present | Present | Profound | Profound |
Abbreviations: ABR, auditory brainstem response; CM, cochlear microphonics; DPOAE, distortion product otoacoustic emissions; ASSR, multifrequency steady-state auditory evoked response; Bil, bilateral.