The primary symptom associated with mutations in the GJB2 gene is a specific type of hearing loss. This condition is also known as DFNB1, and its characteristics are well-defined.
Key Characteristics of GJB2-Related Hearing Loss
Individuals with hearing loss linked to GJB2 gene mutations typically experience a consistent set of symptoms:
- Severity: The hearing loss can range from mild to profound. This means the impact on hearing ability can vary significantly among affected individuals, from minor difficulty to almost complete inability to hear.
- Onset: It is prelingual, meaning the hearing loss is present before a child learns to speak. This early onset is crucial for diagnosis and intervention, as it occurs during a critical period for language development.
- Progression: The hearing loss is non-progressive, which means it does not become more severe over time. Once established, the degree of hearing impairment generally remains stable throughout an individual's life.
To summarize the symptoms of GJB2-related hearing loss:
| Characteristic | Description |
|---|---|
| Severity | Ranges from mild to profound |
| Onset | Prelingual (present before a child learns to speak) |
| Progression | Non-progressive (does not worsen over time) |
Genetic mutations, such as deletions or insertions of DNA building blocks (base pairs) within or near the GJB2 gene, are responsible for causing this specific type of hearing impairment.
