Genes Related To Nonsyndromic Deafness
Mutations in the ACTG1, CDH23, CLDN14, COCH, COL11A2, DFNA5, ESPN, EYA4, GJB2, GJB6, KCNQ4, MYO15A, MYO6, MYO7A, OTOF, PCDH15, POU3F4, SLC26A4, STRC, TECTA, TMC1, TMIE, TMPRSS3, USH1C, and WFS1 genes cause nonsyndromic deafness, with weaker evidence currently implicating genes GJB3, and MYO1A.
The causes of nonsyndromic deafness can be complex. Researchers have identified more than 30 genes that, when mutated, may cause nonsyndromic deafness; however, some of these genes have not been fully characterized. Many genes related to deafness are involved in the development and function of the inner ear. Gene mutations interfere with critical steps in processing sound, resulting in hearing loss. Different mutations in the same gene can cause different types of hearing loss, and some genes are associated with both syndromic and nonsyndromic deafness. In many families, the gene(s) involved have yet to be identified.
Deafness can also result from environmental factors or a combination of genetic and environmental factors, including certain medications, peri-natal infections (infections occurring before or after birth), and exposure to loud noise over an extended period.
Types include:
| OMIM | Gene | Type |
|---|---|---|
| 124900 | DIAPH1 | DFNA1 |
| 600101 | KCNQ4 | DFNA2A |
| 612644 | GJB3 | DFNA2B |
| 601544 | GJB2 | DFNA3A |
| 612643 | GJB6 | DFNA3B |
| 600652 | MYH14 | DFNA4 |
| 600994 | DFNA5 | DFNA5 |
| 601543 | TECTA | DFNA8/12 |
| 601369 | COCH | DFNA9 |
| 601316 | EYA4 | DFNA10 |
| 601317 | MYO7A | DFNA11, neurosensory |
| 601868 | COL11A2 | DFNA13 |
| 602459 | POU4F3 | DFNA15 |
| 603622 | MYH9 | DFNA17 |
| 604717 | ACTG1 | DFNA20/26 |
| 606346 | MYO6 | DFNA22 |
| 605192 | SIX1 | DFNA23 |
| 605583 | SLC17A8 | DFNA25 |
| 608641 | GRHL2 | DFNA28 |
| 606705 | TMC1 | DFNA36 |
| 605594 | DSPP | DFNA36, with dentinogenesis |
| 607453 | CCDC50 | DFNA44 |
| 607841 | MYO1A | DFNA48 |
| 613074 | MIR96 | DFNA50 |
| 220290 | GJB2 | DFNB1A |
| 612645 | GJB6 | DFNB1B |
| 600060 | MYO7A | DFNB2, neurosensory (see also Usher syndrome) |
| 600316 | MYO15A | DFNB3 |
| 600971 | TMIE | DFNB6 |
| 600974 | TMC1 | DFNB7 |
| 601072 | TMPRSS3 | DFNB8, childhood onset |
| 601071 | OTOF | DFNB9 |
| 605316 | TMPRSS3 | DFNB10, congenital |
| 601386 | CDH23 | DFNB12 |
| 603720 | STRC | DFNB16 |
| 602092 | USH1C | DFNB18 |
| 603629 | TECTA | DFNB21 |
| 607039 | OTOA | DFNB22 |
| 609533 | PCDH15 | DFNB23 |
| 611022 | RDX | DFNB24 |
| 613285 | GRXCR1 | DFNB25 |
| 609823 | TRIOBP | DFNB28 |
| 607101 | MYO3A | DFNB30 |
| 607084 | WHRN | DFNB31 |
| 608565 | ESRRB | DFNB35 |
| 609006 | ESPN | DFNB36 |
| 607821 | MYO6 | DFNB37 |
| 608265 | HGF | DFNB39 |
| 610153 | MARVELD2 | DFNB49 |
| 609706 | COL11A2 | DFNB53 |
| 610220 | PJVK | DFNB59 |
| 611451 | LRTOMT | DFNB63 |
| 610265 | LHFPL5 | DFNB67 |
| 613079 | LOXHD1 | DFNB77 |
| 613307 | TPRN | DFNB79 |
| 613391 | PTPRQ | DFNB84 |
| 613453 | SERPINB6 | DFNB91 |
| 304500 | PRPS1 | DFNX1 |
| 304400 | POU3F4 | DFNX2 |
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