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

(*) Homopolymer repeats ≥ 6 located in the exons +/− 10 bp.

(**) Reference: [4].

De Keulenaer et al.

De Keulenaer et al. BMC Medical Genomics 2012 5:17   doi:10.1186/1755-8794-5-17

Open Data