Auditory neuropathy spectrum disorder: genes and variants
Auditory neuropathy spectrum disorder is linked to 2 analyzed proteins (OTOF and PLP1). 5 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Auditory neuropathy spectrum disorder
OTOF: Otoferlin
It couples calcium entry to synaptic-vesicle fusion at inner hair-cell ribbon synapses, enabling rapid transmission of acoustic signals to the auditory nerve. Biallelic loss-of-function variants cause DFNB9 auditory neuropathy or nonsyndromic sensorineural hearing loss.
4 disease-causing and 0 uncertain variants in OTOF are linked to Auditory neuropathy spectrum disorder.
PLP1: Myelin proteolipid protein
It supports central-nervous-system myelin structure and is required for oligodendrocyte and axonal integrity. Gene duplication most commonly causes Pelizaeus-Merzbacher disease, while other variants can cause spastic paraplegia type 2 or milder leukodystrophy.
1 disease-causing and 0 uncertain variants in PLP1 are linked to Auditory neuropathy spectrum disorder.
Known disease-causing variants in Auditory neuropathy spectrum disorder
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| OTOF R566P | 566 | Cytoplasmic | Disease-causing |
| OTOF E1733K | 1733 | C2 7 | Disease-causing |
| OTOF Q498P | 498 | C2 3 | Disease-causing |
| OTOF T512I | 512 | C2 3 | Disease-causing |
| PLP1 G208V | 208 | Extracellular | Disease-causing |
Same protein, different disease
- Autosomal recessive nonsyndromic hearing loss 4 is also caused by OTOF variants; they fall mostly in different places as the Auditory neuropathy spectrum disorder variants (21 disease-causing).
- Nonsyndromic genetic hearing loss is also caused by OTOF variants; they fall mostly in different places as the Auditory neuropathy spectrum disorder variants (8 disease-causing).
- Bilateral sensorineural hearing impairment is also caused by OTOF variants; they fall mostly in different places as the Auditory neuropathy spectrum disorder variants (6 disease-causing).
- Hearing loss is also caused by OTOF variants; they fall mostly in different places as the Auditory neuropathy spectrum disorder variants (6 disease-causing).
- Auditory neuropathy is also caused by OTOF variants; they fall mostly in different places as the Auditory neuropathy spectrum disorder variants (6 disease-causing).
- Pelizaeus-Merzbacher disease is also caused by PLP1 variants; they fall mostly in different places as the Auditory neuropathy spectrum disorder variants (51 disease-causing).
- Hereditary spastic paraplegia is also caused by PLP1 variants; they fall mostly in different places as the Auditory neuropathy spectrum disorder variants (14 disease-causing).
Diseases related to Auditory neuropathy spectrum disorder
- Hereditary spastic paraplegia, also linked to PLP1
- Autosomal recessive nonsyndromic hearing loss 4, also linked to OTOF
- Rare genetic deafness, also linked to OTOF
- Pelizaeus-Merzbacher disease, also linked to PLP1
- Nonsyndromic genetic hearing loss, also linked to OTOF
- Hearing loss, also linked to OTOF
- Auditory neuropathy, also linked to OTOF
- Bilateral sensorineural hearing impairment, also linked to OTOF
- Deafness, also linked to OTOF
Frequently asked questions
Which genes are linked to Auditory neuropathy spectrum disorder?
In CATVariant, Auditory neuropathy spectrum disorder is linked to 2 analyzed proteins: OTOF (Otoferlin) and PLP1 (Myelin proteolipid protein).
How many genetic variants are linked to Auditory neuropathy spectrum disorder?
5 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Auditory neuropathy spectrum disorder look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center