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Table 1 Genes and loci implicated in the pathogenesis of auditory neuropathy (AN) with corresponding phenotypes

From: Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy

Syndrome name Locus Gene Transmission Phenotype Reference
Isolated AN
  2p23-p22 OTOF Recessive Congenital profound deafness [9, 12]
  2q31.1-q31.3 PJVK Recessive Congenital profound deafness [17]
AUNA1 13q21-q24 DIAPH3 Dominant Moderate to profound deafness [11, 20]
  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 [26, 27]
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   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)   Optic neuropathy; mild-to-moderate deafness [41]
  1. ADOA, autosomal dominant optic atrophy; AROA, autosomal recessive optic atrophy; AUNA1, Autosomal dominant auditory neuropathy; AUNX1, auditory neuropathy, X-linked recessive; CMT, Charcot-Marie-Tooth; DDON, deafness dystonia optic neuronopathy; LHON, Leber's hereditary optic neuropathy.