X-linked mixed hearing loss with perilymphatic gusher: genes and variants
X-linked mixed hearing loss with perilymphatic gusher is linked to 2 analyzed proteins (GJB6 and GJB2). 1 DNA variants are known to cause it; 2 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 X-linked mixed hearing loss with perilymphatic gusher
GJB6: Gap junction beta-6 protein
It forms connexin 30 gap junctions in the cochlea, skin, and other epithelia and contributes to intercellular ion and metabolite exchange. Deletions or pathogenic variants can cause nonsyndromic hearing loss or ectodermal dysplasia syndromes.
1 disease-causing and 0 uncertain variants in GJB6 are linked to X-linked mixed hearing loss with perilymphatic gusher.
GJB2: Gap junction beta-2 protein
Its connexin 26 channels support potassium and metabolite recycling within the cochlea and communication across epithelial gap junctions. Biallelic pathogenic variants are among the most common causes of congenital nonsyndromic hearing loss, while dominant variants can cause syndromic deafness with skin disease.
0 disease-causing and 2 uncertain variants in GJB2 are linked to X-linked mixed hearing loss with perilymphatic gusher.
Known disease-causing variants in X-linked mixed hearing loss with perilymphatic gusher
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GJB6 A88V | 88 | Transmembrane | Disease-causing (★★) |
Same protein, different disease
- Hidrotic ectodermal dysplasia syndrome is also caused by GJB6 variants; they fall mostly in different places as the X-linked mixed hearing loss with perilymphatic gusher variants (3 disease-causing).
Diseases related to X-linked mixed hearing loss with perilymphatic gusher
- Autosomal recessive nonsyndromic hearing loss 4, also linked to GJB2 and GJB6
- Autosomal dominant nonsyndromic hearing loss, also linked to GJB2 and GJB6
- Hearing loss, also linked to GJB2 and GJB6
- Noonan syndrome, also linked to GJB2
- Rare genetic deafness, also linked to GJB2
- Nonsyndromic genetic hearing loss, also linked to GJB2
- Monogenic hearing loss, also linked to GJB2
- Mutilating keratoderma, also linked to GJB2
- Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, also linked to GJB2
- Ichthyosis, hystrix-like, with hearing loss, also linked to GJB2
- Palmoplantar keratoderma-deafness syndrome, also linked to GJB2
- Knuckle pads, deafness AND leukonychia syndrome, also linked to GJB2
Frequently asked questions
Which genes are linked to X-linked mixed hearing loss with perilymphatic gusher?
In CATVariant, X-linked mixed hearing loss with perilymphatic gusher is linked to 2 analyzed proteins: GJB6 (Gap junction beta-6 protein) and GJB2 (Gap junction beta-2 protein).
How many genetic variants are linked to X-linked mixed hearing loss with perilymphatic gusher?
5 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in X-linked mixed hearing loss with perilymphatic gusher 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.
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