autosomal dominant nonsyndromic deafness 18

Autosomal dominant nonsyndromic deafness 18, also known as DFNA2, is a form of hearing loss that is inherited in an autosomal dominant manner. This means that if one parent has the condition, each child has a 50% chance of inheriting it.

The hearing loss associated with DFNA2 typically begins in adulthood and can range from mild to severe. It often affects high-frequency sounds first, making it difficult for individuals to hear conversations or understand speech in noisy environments.

According to search result [4], most individuals with DFNA2 nonsyndromic hearing loss have a parent with hearing loss, indicating a strong familial component. The proportion of individuals with a de novo KCNQ4 pathogenic variant (a genetic mutation that occurs spontaneously and is not inherited from either parent) is unknown.

It's worth noting that autosomal dominant nonsyndromic deafness 18 is caused by variations in the chromosome region 3q22, as mentioned in search result [5]. This genetic basis can help guide diagnosis and management of the condition.

Autosomal dominant nonsyndromic deafness, also known as DFNA, is a type of hearing loss that is inherited in an autosomal dominant pattern. This means that a single copy of the mutated gene is enough to cause the condition.

Characteristics of Autosomal Dominant Nonsyndromic Deafness 18:

• Bilateral Hearing Loss: The hearing loss typically affects both ears and can range from mild to severe.
• Post-Lingual Onset: The hearing loss usually occurs after language development, meaning that individuals with this condition may have developed speech and language skills before experiencing hearing difficulties.
• Variable Severity: The severity of the hearing loss can vary significantly among affected individuals.

Other Information:

• Autosomal dominant nonsyndromic deafness 18 is caused by mutations in specific genes (not specified in the provided context).
• This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.
• The clinical spectrum of this condition may range from mild hearing loss to severe deafness.

References:

• [5] by M Aldè · 2023 · Cited by 31 — The characteristics of autosomal dominant non-syndromic HL are heterogenous. However, in most cases, HL tends to be bilateral, post-lingual in onset (childhood ...
• [10] Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), ...

Based on the provided context, here are some diagnostic tests for autosomal dominant nonsyndromic deafness:

• Molecular genetic testing is available in clinical laboratories for many types of syndromic and nonsyndromic deafness, including autosomal dominant nonsyndromic deafness [8].
• Next-generation sequencing technologies can be used to perform a multi-step approach for the diagnosis of non-syndromic genetic hearing loss, which may include autosomal dominant nonsyndromic deafness [9].
• Genetic testing for the GJB2 or GJB6 genes is available and can identify pathogenic variants associated with DFNA3-associated hereditary hearing loss, a type of autosomal dominant nonsyndromic deafness [7].

It's worth noting that the diagnosis of autosomal dominant nonsyndromic deafness typically involves a combination of clinical evaluation, family history, and genetic testing. A comprehensive diagnostic approach may include:

• Clinical evaluation to assess the individual's hearing loss and medical history
• Family history to determine if there is a pattern of inheritance in the family
• Genetic testing to identify pathogenic variants associated with autosomal dominant nonsyndromic deafness

References: [7] Jan 1, 2024 — DFNA3-associated hereditary hearing loss is caused by autosomal dominant pathogenic variants present in the GJB2 or GJB6 genes. [8] by RJH Smith · Cited by 240 — Diagnosis/testing.​​ Molecular genetic testing, available in clinical laboratories for many types of syndromic and nonsyndromic deafness, plays a ... [9] by M Aldè · 2023 · Cited by 31 — The most effective strategy for the diagnosis of non-syndromic genetic HL is to perform a multi-step approach based on next-generation sequencing technologies ...

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

• Currently, corticosteroids such as prednisone, prednisolone, and dexamethasone are not recommended as a first-line treatment for this condition [3].
• The American Academy of Otolaryngology recommends corticosteroids as a treatment option, but it is not clear if they are effective in treating autosomal dominant nonsyndromic deafness [3].
• Gene therapy has been explored as a potential treatment option for hereditary hearing loss, including autosomal dominant nonsyndromic deafness, but more research is needed to determine its effectiveness [10].

It's worth noting that the provided context does not mention any specific drug treatments for autosomal dominant nonsyndromic deafness. However, it does suggest that gene therapy may be a potential area of future research.

References: [3] Liu SS (2022) - Cited by 38 [10] Jiang L (2023) - Cited by 53

Autosomal dominant nonsyndromic deafness (ADNSHL) can be challenging to diagnose, as it often presents with similar symptoms to other hearing loss conditions. A differential diagnosis is essential to rule out other potential causes and confirm the presence of ADNSHL.

Key Considerations:

• Progressive hearing loss: ADNSHL typically presents with progressive hearing loss, which can start at any age but often begins in adulthood.
• High-frequency hearing loss: The majority of cases involve high-frequency hearing loss, particularly in the range of 2-8 kHz.
• Symmetric hearing loss: Hearing loss is usually symmetric, affecting both ears equally.

Differential Diagnosis:

1. Autosomal recessive nonsyndromic deafness (ARNSHL): This condition can present with similar symptoms to ADNSHL but typically involves more severe and congenital hearing loss.
2. Syndromic hearing loss: Certain genetic syndromes, such as Usher syndrome or Pendred syndrome, can also cause hearing loss in addition to other systemic features.
3. Sensorineural hearing loss (SNHL): SNHL is a common condition that can be caused by various factors, including age-related hearing loss, noise exposure, or ototoxicity.
4. Mixed hearing loss: Some individuals may experience mixed hearing loss, which combines elements of conductive and sensorineural hearing loss.

Diagnostic Approaches:

1. Genetic testing: Genetic analysis is essential to confirm the presence of ADNSHL. This involves sequencing genes associated with ADNSHL, such as MYO6 or TECTA.
2. Auditory brainstem response (ABR) testing: ABR testing can help assess the integrity of auditory pathways and identify potential issues related to ADNSHL.
3. Imaging studies: Imaging studies, such as MRI or CT scans, may be necessary to rule out other conditions that could cause hearing loss.

Conclusion:

A thorough differential diagnosis is crucial for accurately diagnosing autosomal dominant nonsyndromic deafness (ADNSHL). By considering the key considerations and potential differential diagnoses outlined above, healthcare professionals can develop an effective diagnostic plan to confirm ADNSHL and rule out other conditions that may be causing hearing loss.

References:

• Table 4 from [insert reference] lists selected genes associated with distinctive clinical features of ADNSHL.
• A comprehensive review of ADNSHL diagnosis and management is provided in [insert reference].