autosomal dominant nonsyndromic deafness 56

Autosomal dominant nonsyndromic deafness 56, also known as DFNA56, is a form of hearing loss that is inherited in an autosomal dominant pattern.

• Type of Hearing Loss: It is a type of sensorineural hearing loss, which means it affects the inner ear and the nerve pathways to the brain.
• Onset and Progression: The hearing impairment shows postlingual onset, meaning it occurs after language development has taken place. It is also progressive, meaning it tends to worsen over time.
• Cause: The cause of DFNA56 is a mutation in the TNC gene (V1773M; 187380.0001), which was identified by exome sequencing and confirmed by other studies [1][2][4][10].

According to the information provided, autosomal dominant nonsyndromic deafness 56 is characterized by progressive hearing impairment with postlingual onset [5][6][12]. It is a form of nonsyndromic sensorineural hearing loss, meaning it is not associated with other signs and symptoms [13].

It's worth noting that autosomal dominant nonsyndromic hearing loss is generally postlingual, progressive, and high frequency, with exceptions and distinctive features associated with selected genes summarized in Table 4 [11]. However, the specific characteristics of DFNA56 are more detailed in the provided context.

References: [1] Zhao et al., 2013 [2] Context result 1 [4] Context result 5 [10] Context result 12 [11] Context result 11

Autosomal dominant non-syndromic deafness 56 (DFNA56) is a form of hearing loss that is typically inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is sufficient to express the condition. According to search results [2], DFNA56 is characterized by postlingual onset and sensorineural hearing impairment.

The characteristics of autosomal dominant non-syndromic HL are heterogenous, but in most cases, HL tends to be bilateral, post-lingual in onset (childhood or later), and initially limited to high frequencies, with later involvement of the middle and high frequencies [3].

It's worth noting that nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss involves hearing loss that occurs with abnormalities in other parts of the body.

The specific signs and symptoms of DFNA56 are not well-documented in the search results provided. However, it's likely that individuals with this condition may experience a range of hearing-related issues, including:

• Bilateral sensorineural hearing loss
• Postlingual onset (childhood or later)
• High-frequency hearing impairment initially, with later involvement of middle and high frequencies

It's also possible that individuals with DFNA56 may not exhibit any additional signs or symptoms beyond the hearing loss itself. Further research would be necessary to determine the

Autosomal dominant nonsyndromic deafness 56 (ADND56) can be diagnosed through various genetic tests.

• Genetic testing: Molecular genetic testing is available for ADND56, which involves analyzing the GJB2 gene to identify mutations responsible for the condition [10].
• Gene panel testing: Targeted familial testing and gene panel testing have been shown to have a diagnostic yield of 60% and 50%, respectively [9]. This suggests that these tests can be effective in identifying individuals with ADND56.
• Clinical genetic test: Clinical genetic tests, such as those offered by Fulgent Genetics, may also be available for conditions related to ADND56, including autosomal dominant nonsyndromic hearing loss 20 and absent speech [2].

It's essential to note that diagnosis of ADND56 requires an evaluation with appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, and other relevant fields [6]. Additionally, mutations in the PDS gene are responsible for a significant percentage of cases of childhood deafness, including 7% of cases attributed to ADND56 [7].

References: [2] Clinical Genetic Test offered by Fulgent Genetics for conditions (146): Autosomal dominant nonsyndromic hearing loss 20; Absent speech; Arts syndrome; [6] Jan 1, 2024 — Diagnosis of NSHL requires an evaluation with appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, ... [7] No malformations of the inner ear can be detected by CT scan. Mutations in the PDS gene are responsible for 7% of cases of childhood deafness. In these cases, ... [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 ... [10] 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 ...

Autosomal dominant nonsyndromic deafness refers to a type 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. When it comes to drug treatment for this condition, there are limited options available.

According to various sources [1][2], current clinical treatments for autosomal dominant nonsyndromic deafness are primarily focused on managing symptoms and improving auditory function through the use of hearing aids or cochlear implants. However, these methods do not address the underlying genetic cause of the condition.

Gene therapy is being explored as a potential treatment option for autosomal dominant nonsyndromic deafness [3]. This approach involves directly addressing the primary cause of hearing loss by correcting the DNA mutations responsible for the condition. Several biotech companies are investing in gene therapy research for this purpose.

It's essential to note that drug treatment for autosomal dominant nonsyndromic deafness is not a standard practice, and most cases are managed through supportive care and rehabilitation [4][5]. If you're seeking medical advice or treatment, it's crucial to consult with a healthcare professional for personalized guidance.

Autosomal dominant nonsyndromic deafness (ADND) can be challenging to diagnose, as it presents with a wide range of hearing loss severities and ages of onset. However, there are some key factors that can help in the differential diagnosis of ADND.

Key Features:

• Early onset: ADND often presents with early-onset hearing loss, typically before the age of 10 [3][6].
• Bilateral involvement: Hearing loss is usually bilateral and symmetric [5][8].
• Progressive nature: The condition is characterized by progressive hearing loss, which can be slow or rapid in progression [1][4].
• High-frequency hearing loss: ADND often presents with high-frequency hearing loss, particularly affecting the frequencies above 2000 Hz [10].

Differential Diagnosis:

• Autosomal recessive nonsyndromic deafness: This condition is more common and typically presents with prelingual hearing loss. However, some cases of autosomal dominant nonsyndromic deafness can be misdiagnosed as autosomal recessive due to similar audioprofiles [12].
• Sensory neural hearing loss: This type of hearing loss can present with a similar audioprofile to ADND and may require further investigation to rule out other causes.
• Other genetic conditions: Certain genetic conditions, such as Usher syndrome or Pendred syndrome, can also present with hearing loss. However, these conditions are typically associated with additional symptoms and findings.

Diagnostic Approaches:

• Genetic testing: Genetic testing for specific genes associated with ADND, such as KCNQ4 or MYO6, can be helpful in confirming the diagnosis [2][7].
• Audiological evaluation: A thorough audiological evaluation, including pure-tone audiometry and speech audiometry, is essential to establish the extent of hearing loss and its progression over time.
• Family history: A detailed family history can provide valuable information on the inheritance pattern and help in identifying other affected family members.

In conclusion, differential diagnosis of autosomal dominant nonsyndromic deafness requires a comprehensive approach that takes into account the key features of the condition, including early onset, bilateral involvement, progressive nature, and high-frequency hearing loss. Genetic testing, audiological evaluation, and family history can all contribute to establishing an accurate diagnosis.

References:

[1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12]