autosomal recessive nonsyndromic deafness 12

Autosomal Recessive Nonsyndromic Deafness 12 (DFNB12) is a form of non-syndromic sensorineural hearing loss caused by mutations in the CDH23 gene on chromosome 10q22 [5][6]. This condition is characterized by prelingual onset with severe to profound, stable hearing loss [1][2].

The CDH23 gene plays a crucial role in the development and maintenance of the inner ear's sensory cells, which are responsible for detecting sound vibrations. Mutations in this gene can disrupt the normal functioning of these cells, leading to significant hearing impairment.

According to various studies, mutations in the CDH23 gene account for more than 50% of families with autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations [4]. This suggests that DFNB12 is a relatively common cause of inherited deafness.

It's essential to note that individuals who carry one copy of the mutated CDH23 gene, but do not have hearing loss themselves, can still pass it on to their offspring. This means that family members may be carriers without showing symptoms [3].

Overall, DFNB12 is a significant genetic cause of congenital and prelingual hearing loss, affecting individuals worldwide.

References:

[1] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. Images (3) details. details. details. Autosomal recessive nonsyndromic hearing loss 12 (DFNB12).

[2] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.

[3] Mutations in human and/or mouse homologs are associated with this disease. Synonyms: autosomal recessive deafness 12; DFNB12.

[4] Mutations in the CDH23 gene account for more than 50% of families with autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations.

[5] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. Images (3) details. details. details. Autosomal recessive nonsyndromic hearing loss 12 (DFNB12).

[6] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.

Autosomal recessive nonsyndromic deafness 12 (DFNB12) is a form of hearing loss that is not associated with other signs or symptoms. This condition is caused by mutations in the GJB2 gene on chromosome 13q12.

The primary sign and symptom of DFNB12 is sensorineural hearing loss, which can range from mild to profound. Individuals with this condition may experience difficulty hearing sounds, especially in the high-frequency range.

Some key points about autosomal recessive nonsyndromic deafness 12 are:

• Hearing loss: The most common symptom of DFNB12 is sensorineural hearing loss, which can be unilateral or bilateral.
• Age of onset: Hearing loss associated with DFNB12 typically begins in childhood or adolescence.
• Progression: In some cases, the hearing loss may progress over time, while in others it may remain stable.

It's worth noting that individuals with autosomal recessive nonsyndromic deafness 12 do not exhibit any other signs or symptoms beyond hearing loss. This condition is a form of non-syndromic deafness, meaning it is not associated with any other medical issues or physical characteristics.

References:

• [8] Nonsyndromic autosomal recessive deafness-12 (DFNB12) is caused by homozygous or compound heterozygous mutations in the GJB2 gene.
• [9] Deafness, autosomal recessive 1a is a form of non-syndromic sensorineural hearing loss caused by mutations in the GJB2 gene on chromosome 13q12.

Autosomal Recessive Nonsyndromic Deafness 12 (ARND12) is a genetic disorder that affects hearing. Diagnostic tests for ARND12 are crucial for early detection and management of the condition.

Available Genetic Tests

According to search results, clinical resources provide information about available genetic tests for ARND12, including:

• ATP2B2
• CDH23

These genetic tests can help identify mutations associated with ARND12. Early diagnosis through these tests can facilitate timely intervention and improve patient outcomes [1].

Other Diagnostic Tests

While specific diagnostic tests for ARND12 are not mentioned in the search results, it is essential to consider other diagnostic approaches that may be relevant for this condition. These might include:

• Audiological evaluations to assess hearing thresholds
• Genetic counseling to discuss inheritance patterns and risks
• Molecular genetic testing to identify mutations in genes associated with ARND12

Recommendations

Based on available information, targeted familial testing has a diagnostic yield of 60% (n = 3 patients), while gene panel testing has a yield of 50% (n = 5) [9]. These findings suggest that a combination of genetic and molecular tests may be beneficial for diagnosing ARND12.

References

[1] Clinical resource with information about Autosomal recessive nonsyndromic hearing loss 12 and its clinical features, ATP2B2, CDH23, available genetic tests [2] [9] by S Alkhidir · 2024 — The diagnostic yield for targeted familial testing was 60% (n = 3 patients) and for gene panel was 50% (n = 5). Thus, we recommend using GJB2 ...

Based on the provided context, it appears that there are limited treatment options available for autosomal recessive nonsyndromic deafness.

• Currently, the only FDA-approved treatments for SNHL (Sensorineural Hearing Loss) include hearing aids and cochlear implants [2].
• Gene therapy is a promising approach for hereditary deafness, but more research is needed to explore its potential as a treatment option [5][6].
• Patients with mild and moderate hearing loss can use hearing aids, while those with severe or profound hearing loss may require cochlear implants [8].

It's worth noting that gene therapy has shown promise in treating certain types of hereditary deafness, but more research is needed to fully understand its potential as a treatment option for autosomal recessive nonsyndromic deafness.

References: [2] Current treatment options approved by the United States Food and Drug Administration (U.S. FDA) for SNHL mainly comprise hearing aids and cochlear implants. [5] Gene therapy is a promising approach for hereditary deafness. We recently showed that unilateral AAV1-hOTOF gene therapy with dual ... [6] The most promising results about a genetic therapy for autosomal recessive congenital hearing loss are those associated with hearing impairments caused by OTOF ... [8] Approaches to reversing or preventing genetic hearing loss are limited. Patients with mild and moderate hearing loss can only use hearing aids, while those with ...

Autosomal Recessive Nonsyndromic Deafness 12 (ARNSD12) is a form of non-syndromic sensorineural hearing loss caused by mutations in the CDH23 gene on chromosome 10q22. To determine the differential diagnosis for ARNSD12, it's essential to consider other possible causes of similar symptoms.

• Other genetic conditions: Mutations in genes such as MYO15A, STRC, and GJB2 can also cause autosomal recessive nonsyndromic hearing loss. These conditions may present with similar symptoms, making differential diagnosis crucial.
• Environmental factors: Exposure to certain environmental toxins or infections during pregnancy or early childhood can lead to hearing loss. However, these cases are relatively rare compared to genetic causes.
• Other medical conditions: Certain medical conditions, such as otosclerosis or Meniere's disease, can also cause sensorineural hearing loss. These conditions may require different treatment approaches.

To accurately diagnose ARNSD12, a comprehensive evaluation by an audiologist and/or a geneticist is necessary. This may involve:

• Genetic testing: To confirm the presence of mutations in the CDH23 gene.
• Audiological assessment: To determine the extent and nature of hearing loss.
• Medical history: To identify any potential environmental or medical factors that may have contributed to the condition.

By considering these factors, healthcare professionals can develop an accurate differential diagnosis for ARNSD12 and provide appropriate guidance and support for affected individuals and their families.