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

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

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]

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.

ISSN: 1756-994X