GJB2 disease, more accurately termed GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL), is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss.
Understanding GJB2-Related Hearing Loss
Here's a more detailed breakdown:
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Genetic Cause: GJB2-AR NSHL is caused by mutations in the GJB2 gene.
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Autosomal Recessive: This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the hearing loss. If a person inherits only one copy, they are a carrier but usually do not have hearing loss.
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Nonsyndromic: The hearing loss is isolated, meaning it's not associated with other medical conditions or physical features.
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Congenital: The hearing loss is present at birth.
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Severe-to-Profound: The hearing loss is significant, ranging from difficulty hearing loud sounds to complete deafness.
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Non-Progressive: The hearing loss does not worsen over time.
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Sensorineural: The hearing loss is caused by a problem in the inner ear (cochlea) or the auditory nerve.
Key Aspects Summarized:
| Feature | Description |
|---|---|
| Gene Involved | GJB2 |
| Inheritance Pattern | Autosomal Recessive |
| Type of Hearing Loss | Sensorineural |
| Severity | Severe to Profound |
| Onset | Congenital (present at birth) |
| Progression | Non-Progressive (does not worsen over time) |
| Associated Features | Nonsyndromic (hearing loss is the only primary symptom) |
