Table 1 Analyzed genes
Gene | Number of exons | Number of mutations worldwide** | Number of homopolymer repeats* in CDS | Function in hearing process |
|---|---|---|---|---|
GJB2 | 2 | > 220 | 0 | ion homeostasis |
SLC26A4 | 21 | 43 | 7 | ion homeostasis |
MYO15A | 66 | 28 | 8 | hair bundle, motor protein |
OTOF | 48 | 26 | 4 | exocytose at auditory ribbon synapse |
CDH23 | 69 | 21 | 4 | hair bundle, adhesion protein |
TMC1 | 24 | 20 | 4 | unknown function |
TMPRSS3 | 13 | 16 | 3 | unknown function |
TECTA | 23 | 10 | 2 | extracellular matrix protein |
TRIOBP | 24 | 9 | 7 | hair bundle, cytoskeletal formation |
TMIE | 4 | 8 | 0 | unknown function |
PJVK | 7 | 7 | 3 | signaling of hair cells and neurons |
ESPN | 13 | 6 | 1 | hair bundle, cytoskeletal formation |
PCDH15 | 33 | 5 | 8 | hair bundle, adhesion protein |
ESRRB | 12 | 5 | 1 | transcription factor |
MYO7A | 49 | 5 | 5 | hair bundle, motor proteins |