autosomal dominant nonsyndromic deafness 58

Autosomal dominant nonsyndromic deafness 58, also known as DFNA58, is a form of hearing loss that is inherited in an autosomal dominant pattern.

• Inheritance: This type of hearing loss is caused by variations in the chromosome region 2p21-p12. It is characterized by autosomal dominant inheritance, meaning that only one copy of the mutated gene is needed to express the condition [1

Autosomal dominant non-syndromic deafness 58 (DFNA58) is a form of hearing loss that is inherited in an autosomal dominant pattern. The signs and symptoms associated with this condition are:

• Postlingual sensorineural deafness: This refers to hearing loss that occurs after language development, typically affecting the ability to hear high-frequency sounds.
• Tinnitus: Many individuals with DFNA58 experience ringing or other noises in their ears (tinnitus).
• Vestibular dysfunction: Some people may also experience balance problems or dizziness due to vestibular system issues.

It's worth noting that these symptoms can vary in severity and impact from person to person. The age of onset for DFNA58 is typically childhood, but the exact timing can differ among individuals [7][8].

References: [7] - Mar 14, 2024 — Autosomal dominant deafness-58 (DFNA58) is characterized by postlingual sensorineural deafness, with tinnitus and vestibular dysfunction. [8] - Rare autosomal dominant non-syndromic sensorineural deafness type DFNA ; Prevalence: Unknown ; Inheritance: Autosomal dominant ; Age of onset: Childhood.

Autosomal dominant nonsyndromic deafness (ADNSHL) is a form of hearing loss that is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. Diagnostic tests for ADNSHL typically involve genetic testing to identify the specific gene mutation responsible for the hearing loss.

Genetic Testing

Genetic testing is the primary diagnostic tool for ADNSHL. This involves analyzing DNA samples from affected individuals and their family members to identify mutations in genes associated with ADNSHL. The most common genetic tests used for ADNSHL include:

• Exome sequencing: This test analyzes the entire exome (the protein-coding regions of the genome) to identify mutations in genes associated with ADNSHL.
• Gene-specific mutation screening: This test targets specific genes known to be associated with ADNSHL, such as GJB2, MYO6, and TECTA.

Other Diagnostic Tests

In addition to genetic testing, other diagnostic tests may be used to support the diagnosis of ADNSHL. These include:

• Auditory brainstem response (ABR) testing: This test measures the electrical activity in the brain's auditory pathway in response to sound stimuli.
• Otoacoustic emission (OAE) testing: This test measures the sounds produced by the inner ear in response to sound stimuli.

Diagnostic Yield

The diagnostic yield of genetic tests for ADNSHL can vary depending on the specific gene being tested and the population being studied. However, studies have shown that:

• Connexin 26 (GJB2) testing: This test has a high diagnostic yield for ADNSHL, with mutations in GJB2 accounting for approximately 20-30% of cases.
• Other genetic tests: These tests may have lower diagnostic yields, but can still be useful in identifying specific gene mutations associated with ADNSHL.

References

[8] by RJH Smith · Cited by 241 — Diagnosis/testing.​​ Molecular genetic testing, available in clinical laboratories for many types of syndromic and nonsyndromic deafness, plays a ... [1] [12] If nons

Autosomal dominant nonsyndromic deafness (ADND) is a genetic hearing loss condition that affects approximately 10-15% of cases [5]. While there is no specific drug treatment for ADND, the primary goal of treatment is to manage and improve hearing thresholds through audiological follow-up and prompt intervention with hearing aids or cochlear implants [1].

According to recent studies, a long audiological follow-up is crucial in identifying hearing threshold deteriorations early and ensuring timely treatment [1][6]. However, there is currently no established pharmacological treatment for ADND.

Gene therapy has shown promise in addressing the primary cause of hearing loss (DNA mutations) in some cases [7]. Nevertheless, this approach is still under investigation and not yet widely available as a treatment option.

In terms of drug treatment, there are no specific medications approved for the management of ADND. However, researchers are exploring various therapeutic approaches to address the underlying genetic causes of hearing loss.

Current Treatment Options:

• Audiological follow-up to monitor hearing thresholds
• Hearing aids or cochlear implants for symptom management

Emerging Therapies:

• Gene therapy to directly address DNA mutations causing hearing loss

Please consult with a healthcare professional for medical advice and treatment [8][10].

Autosomal dominant nonsyndromic deafness (ADNSHL) can be challenging to diagnose, as it often presents with similar symptoms to other hearing loss conditions. However, there are some key factors that can help in making a differential diagnosis.

Key characteristics of ADNSHL:

• Early onset: ADNSHL typically begins at a young age, often before the age of 10 [1].
• Bilateral involvement: The condition affects both ears, with varying degrees of severity [4].
• Progressive hearing loss: Hearing loss in ADNSHL is usually progressive, meaning it worsens over time [5].
• High-frequency hearing loss: The condition often presents with high-frequency hearing loss, particularly in the 2000-8000 Hz range [5].

Differential diagnosis:

When considering a differential diagnosis for ADNSHL, the following conditions should be ruled out:

• Autosomal recessive nonsyndromic deafness: This condition is typically congenital or prelingual and often leads to severe hearing loss [7].
• Sporadic cases of hearing loss: Some cases of hearing loss may not have a clear genetic cause, making it essential to rule out other potential causes.
• Syndromic hearing loss: Conditions like Usher syndrome, Pendred syndrome, or Jervell and Lange-Nielsen syndrome should be considered if there are additional symptoms beyond hearing loss.

Genetic testing:

In cases where ADNSHL is suspected, genetic testing can help identify the underlying cause. The most commonly implicated genes in ADNSHL include GJB2, GJB6, and DIAPH1 [8]. Variants in these genes have been associated with autosomal dominant inheritance patterns.

References:

[1] Feb 1, 2016 — Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal ...

[4] Autosomal dominant forms are characterised by very early onset and bilateral hearing loss with varying degrees of severity (ranging from mild to profound). No ...

[5] Sep 28, 2023 — In general, autosomal dominant nonsyndromic hearing loss is postlingual, progressive, and high frequency. Exceptions to this generalization and/ ...

[7] by Y Feng · 2023 · Cited by 1 — Autosomal recessive nonsyndromic deafness, on the other hand, is congenital or prelingual, and most of the time it leads to severe hearing loss (Sundstrom et al ...

[8] Table 1: The genes most commonly identified as causing non-syndromic hearing loss ... *Variants in GJB2 and GJB6 are also implicated in autosomal dominant hearing ...