autosomal recessive nonsyndromic deafness 85

Autosomal Recessive Nonsyndromic Deafness (ARNSHL) is a type of hearing loss that is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene are required for the condition to manifest. This form of deafness is caused by mutations in various genes and is one of the most common causes of congenital severe-to-profound hearing loss.

Characteristics:

• Inheritance: Autosomal recessive, where two copies of the mutated gene (one from each parent) are required for the condition to manifest.
• Prevalence: Accounts for approximately 85% of cases of nonsyndromic deafness.
• Gene involvement: Mutations in various genes can cause ARNSHL, with the GJB2 gene being one of the most common causes.

Key points:

• The parents of affected individuals are usually carriers and have a 25% chance (one-in-four) of passing on the mutated gene to their offspring.
• Individuals who inherit only one copy of the mutated gene are typically asymptomatic carriers.
• ARNSHL can result in severe-to-profound hearing loss, often present at birth.

References:

• [4] states that in 85% of cases, the deafness is transmitted as an autosomal recessive trait (DFNB type).
• [6] mentions that the parents of most affected individuals are carriers and have a 25% chance of passing on the mutated gene to their offspring.
• [8] notes that between 75% and 80% of cases of nonsyndromic deafness are inherited in an autosomal recessive pattern, which is consistent with ARNSHL.

Autosomal recessive nonsyndromic deafness, also known as DFNB, is a type of hearing loss that is not associated with other signs and symptoms. However, based on the search results, here are some common characteristics of autosomal recessive nonsyndromic deafness:

• Early-onset: Autosomal recessive nonsyndromic deafness often presents at birth or in early childhood [1].
• Bilateral hearing loss: The condition typically affects both ears, although it can be asymmetric [6].
• Severe to profound hearing loss: The degree of hearing loss can range from severe to profound, with some individuals experiencing complete hearing loss [11].
• Prelingual onset: Hearing loss in autosomal recessive nonsyndromic deafness is often prelingual, meaning it occurs before language development [14].

It's essential to note that these characteristics are specific to autosomal recessive nonsyndromic deafness and may not be applicable to other types of hearing loss.

References: [1] Context 2 [6] Context 6 [11] Context 11 [14] Context 14

Autosomal Recessive Nonsyndromic Deafness (ARNSHL) is a genetic disorder that affects hearing, and diagnostic tests play a crucial role in its identification. Here are some key points about the diagnostic tests for ARNSHL:

• Molecular Genetic Testing: This is a primary test used to diagnose ARNSHL. It involves analyzing DNA samples from affected individuals or family members to identify mutations in genes associated with the condition (1, 9). The most common gene associated with ARNSHL is GJB2, and testing for this gene can help confirm the diagnosis (10).
• Genetic Testing: Genetic testing can be performed on blood, saliva, or tissue samples. It involves analyzing DNA sequences to identify mutations in genes that cause ARNSHL (4). This test can also help determine if family members are carriers of the condition.
• Audiometric Testing: Audiometric tests measure hearing thresholds and can help confirm the presence of hearing loss. These tests may include pure-tone audiometry, speech audiometry, or other specialized tests to assess hearing function (3).
• Family History and Physical Examination: A thorough family history and physical examination are essential in identifying individuals with ARNSHL. This includes assessing for signs of hearing loss, as well as evaluating the presence of any associated malformations or syndromes (8).

It's worth noting that genetic testing has not been proposed as a primary screen for hearing loss, but rather as a diagnostic tool to confirm the presence of ARNSHL in individuals with suggestive findings (4).

Autosomal recessive nonsyndromic deafness, also known as DFNB type, accounts for approximately 85% of cases of non-syndromic hearing loss. Unfortunately, there is no specific drug treatment available for this condition.

However, researchers are exploring various gene therapy approaches to treat autosomal recessive nonsyndromic deafness. For example, a study published in 2024 demonstrated the effectiveness of AAV1-hOTOF gene therapy in treating hereditary deafness [2]. This approach involves using a viral vector (AAV) to deliver a healthy copy of the affected gene to the inner ear.

Currently, the most common treatment options for autosomal recessive nonsyndromic deafness are cochlear implants or hearing aids. These devices can significantly improve communication and quality of life for individuals with this condition [5].

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: [2] Gene therapy is a promising approach for hereditary deafness. We recently showed that unilateral AAV1-hOTOF gene therapy with dual ... [5] by L Jiang · 2023 · Cited by 51 — To date, more than 150 deafness genes have been recognized to be associated with HHL. Current clinical treatments for HHL are cochlear implants or hearing aids, ...

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