Table 3.
Gene | Mutation | Proposed Gene Function | Reference |
---|---|---|---|
ACTG1 | DFNA20/26 | hair cell maintenance and repair | (Zhu et al., 2003) |
COCH | DFNA9 | extracellular matrix | (de Kok et al., 1999) |
DFNA5 | DFNA5 | unknown | (Van Laer et al., 2002) |
GRHL2 | DFNA28 intron 1 SNP |
cochlear epithelial cell maintenance? | (Van Laer et al., 2008) |
GRM7 | SNPs | susceptibility to glutamate excitotoxicity | (Friedman et al., 2008) |
KCNQ4 | DFNA2 SNPs |
potassium recycling, regulation of OHC depolarization | (Kubisch et al., 1999; Van Eyken et al., 2006) |
mtDNA genes | several | energy metabolism, oxidative stress | (Fischel-Ghodsian, 1999) |
NAT2 | SNPS | detoxification of reactive oxygen species | (Unal et al., 2005; Van Eyken et al., 2007) |