Syndrome name | Locus | Gene | Transmission | Phenotype | Reference |
---|---|---|---|---|---|
Isolated AN | |||||
 | 2p23-p22 | OTOF | Recessive | Congenital profound deafness | |
 | 2q31.1-q31.3 | PJVK | Recessive | Congenital profound deafness | [17] |
AUNA1 | 13q21-q24 | DIAPH3 | Dominant | Moderate to profound deafness | |
 | mtDNA | 12 S rRNA (T1095C) |  | Moderate deafness | [23] |
Non-isolated AN | |||||
CMT 1A | 17p11.2-p12 | PMP22 | Dominant | Mild to severe deafness; demyelinating neuropathy | [25] |
CMT 1B | 1q22 | MPZ | Dominant | Mild to severe deafness; demyelinating neuropathy | [24] |
CMT 2E | 8p21 | NF-L | Dominant | Normal hearing; axonal neuropathy | [29] |
CMT 4D | 8q24.3 | NDRG1 | Recessive | Mild to severe deafness; axonal/demyelinating neuropathy | |
CMT | 1p34 | GJB3 (Cx31) | Dominant | Mild deafness | [30] |
CMT 1X | Xp13 | GJB1 (Cx32) | X-linked Dominant | Demyelinating neuropathy | [31] |
ADOA | 3q28-q29 | OPA1 (R445H) | Dominant | Optic neuropathy; moderate deafness | [36] |
AROA | 11q14.1-11q22.3 | TMEM126A | Recessive | Optic neuropathy; mild hearing loss | [42] |
Friedreich's ataxia | 9q13 | FXN | Recessive | Ataxia; axonal neuropathy; optic neuropathy; cardiomyopathy; normal hearing threshold; mild deafness | [43] |
AUNX1 | Xq23-q27.3 | Â | X-linked Recessive | Sensory axonal neuropathy; mild-to-severe deafness | [46] |
DDON (Mohr-Tranebjaerg) | Xq22.1 | TIMM8A | X-linked Recessive | Progressive deafness; dystonia, optic neuropathy; dementia | [45] |
Wolfram | 4p16.1 | WFS1 | Recessive | Optic atrophy, diabetes, progressive deafness, dementia | [47] |
LHON (Leber) | mtDNA | MTND4 (11778mtDNA) | Â | Optic neuropathy; mild-to-moderate deafness | [41] |