autosomal dominant nonsyndromic deafness 4A

Autosomal dominant nonsyndromic deafness 4A, also known as DFNA4A, is a form of non-syndromic sensorineural hearing loss caused by damage to the neural receptors of the inner ear, nerve pathways, and auditory processing centers in the brain [1][3]. This condition is characterized by postlingual onset with flat or gently sloping hearing audioprofiles [6][9].

The cause of autosomal dominant nonsyndromic deafness 4A is a mutation in the MYH14 gene, which is responsible for encoding a protein involved in the structure and function of the inner ear [3][5]. This genetic mutation leads to damage to the neural receptors of the inner ear, resulting in hearing loss.

Autosomal dominant nonsyndromic deafness 4A can be classified as a form of autosomal dominant inheritance, meaning that a single copy of the mutated gene is sufficient to cause the condition [2][10]. This means that if one parent has the mutation, each child has a 50% chance of inheriting it.

The symptoms of autosomal dominant nonsyndromic deafness 4A typically begin after language acquisition (postlingually) and can range from mild to severe hearing loss. The condition is usually diagnosed through genetic testing, which can identify the presence of the MYH14 gene mutation [1][5].

It's worth noting that autosomal dominant nonsyndromic deafness 4A is a rare form of hearing loss, and more research is needed to fully understand its causes and effects. However, with advances in genetic testing and technology, it's becoming increasingly possible to diagnose and manage this condition.

References: [1] Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 4A and its clinical features, MYH14, available genetic tests from US ... [2] 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 ... [3] Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene. [5] A number sign (#) is used with this entry because autosomal dominant nonsyndromic deafness-4A (DFNA4A) is caused by heterozygous mutation in the MYH14 gene ... [6] Definition: An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and ... [9] Disease Ontology Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing ... [10] 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 ...

Autosomal dominant nonsyndromic deafness 4A (DFNA4A) is a genetic condition that affects hearing. According to the available information, the signs and symptoms associated with this condition are not explicitly listed in the search results provided.

However, based on the context [6] which states that "autosomal dominant nonsyndromic deafness-4A (DFNA4A) is caused by heterozygous mutation in the MYH14 gene", it can be inferred that the primary symptom of this condition is hearing loss. The severity and age at onset of the hearing loss may vary, as mentioned in [7].

Unfortunately, there is limited information available on the specific signs and symptoms associated with autosomal dominant nonsyndromic deafness 4A. However, it's worth noting that the context mentions other conditions that are associated with similar genetic mutations, such as heterochromia iridis (different colored eyes) [3], which may be a possible sign or symptom of this condition.

It is essential to consult a medical professional for accurate and detailed information on the signs and symptoms of autosomal dominant nonsyndromic deafness 4A.

Autosomal dominant nonsyndromic deafness 4A (DFNA4) is a genetic disorder that affects hearing, and diagnostic tests are crucial for its identification.

Available Diagnostic Tests:

• Exome-based NextGen sequencing with CNV analysis [4]: This test is considered the favored approach for diagnosing autosomal dominant nonsyndromic deafness 4A. It allows for cost-effective reflexing to PGxome or other exome-based testing.
• Genetic testing offered by PreventionGenetics, part of Exact Sciences [2]: This clinical genetic test is specifically designed for conditions like autosomal dominant nonsyndromic hearing loss 4A.

Characteristics of the Disorder:

• Postlingual onset with flat or gently sloping hearing profiles [6][8]
• Associated with mutations in the MYH14 gene on chromosome 19q13.33 [6]

Ideal Patient Population:

• Patients with a clinical suspicion of syndromic or non-syndromic genetic hearing loss [7]: This test is ideal for patients who are suspected to have autosomal dominant nonsyndromic deafness 4A.

Note that the diagnostic tests mentioned above are based on the information provided in the search results, specifically:

• Context #2: Clinical Genetic Test offered by PreventionGenetics, part of Exact Sciences
• Context #4: Our favored testing approach is exome based NextGen sequencing with CNV analysis.
• Context #7: Is ideal for patients with a clinical suspicion of syndromic or non-syndromic genetic hearing loss.

Autosomal dominant nonsyndromic deafness 4A (DFNA4) is a genetic form of hearing loss that affects the inner ear. While there are no specific drug treatments mentioned in the search results for DFNA4, research has explored various therapeutic approaches to slow down or halt the progression of hearing loss.

• RNA interference (RNAi) therapy has been investigated as a potential treatment for DFNA4. A study published in 2016 demonstrated that using RNAi to suppress expression of an endogenous deafness-causing allele can slow progression of hearing loss [1][2].
• Gene therapy, specifically the use of artificial microRNAs carried in viral vectors, has also been explored as a potential treatment for DFNA4. A study published in 2016 showed that a single intracochlear injection of an artificial microRNA can slow progression of hearing loss for up to 35 days [1][3].
• Genetic testing and counseling are essential for individuals with DFNA4, as they can help identify the underlying genetic cause of their hearing loss. This information can be used to inform reproductive decisions and provide guidance on managing the condition.

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual circumstances.

References: [1] Shibata SB, et al. (2016) - [4][5] [2] Wang M, et al. (2020) - [6] [3] Lei P, et al. (2024) - [7]

Note: The search results provided do not mention specific drug treatments for autosomal dominant nonsyndromic deafness 4A. However, they do highlight potential therapeutic approaches and the importance of genetic testing and counseling in managing this condition.

Autosomal dominant nonsyndromic deafness 4A (DFNA4A) is a genetic condition characterized by progressive sensorineural hearing loss. To determine the differential diagnosis for this condition, we need to consider other possible causes of similar symptoms.

• Other forms of autosomal dominant nonsyndromic deafness: There are several other forms of autosomal dominant nonsyndromic deafness, including DFNA4B, which is caused by a mutation in the CEACAM16 gene. These conditions may present with similar symptoms to DFNA4A.
• Autosomal recessive nonsyndromic hearing loss: Autosomal recessive nonsyndromic hearing loss can also cause progressive sensorineural hearing loss, although it typically presents earlier in life and is more severe than autosomal dominant forms.
• Syndromic hearing loss: Certain syndromes, such as Waardenburg syndrome, can also cause hearing loss. However, these conditions are typically associated with other physical characteristics or symptoms that distinguish them from nonsyndromic hearing loss.

To differentiate DFNA4A from other conditions, the following factors should be considered:

• Family history: A family history of hearing loss is common in autosomal dominant forms, including DFNA4A.
• Age of onset: Autosomal dominant nonsyndromic deafness typically presents later in life than autosomal recessive forms.
• Severity and progression: The severity and progression of hearing loss can vary between individuals with different forms of autosomal dominant nonsyndromic deafness.

It's worth noting that a definitive diagnosis of DFNA4A requires genetic testing to confirm the presence of a mutation in the MYH14 gene.