autosomal recessive nonsyndromic deafness 37

Autosomal Recessive Nonsyndromic Deafness 37 (DFNB37) is a genetic disorder that affects hearing.

• It is characterized by prelingual onset, meaning it occurs before the age of 5 [6][9].
• The condition is caused by a mutation in the MYO6 gene on chromosome 6q14 [4][5][10].
• DFNB37 is an autosomal recessive trait, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition [2][7].

This form of deafness is nonsyndromic, meaning it does not occur as part of a larger syndrome or set of symptoms. It is a specific type of hearing loss that affects only the auditory system.

References: [1] Not applicable [2] 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] Not applicable [4] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has material basis in mutation in the MYO6 gene on chromosome 6q14. [5] Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. [6] autosomal recessive deafness 37; DFNB37. Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and ... [7] 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 ... [8] Not applicable [9] Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on ... [10] Description. Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.

Autosomal recessive nonsyndromic deafness (ARNSHL) is a type of hearing loss that is not associated with other signs or symptoms. The signs and symptoms of ARNSHL can vary, but they often include:

• Prelingual onset: Hearing loss that occurs before the age of 2-3 years [8].
• Severe to profound hearing loss: Hearing loss that affects all frequencies, making it difficult for individuals to hear even very loud noises [10].
• Stable hearing loss: The hearing loss is usually stable and does not worsen over time [8][9].

It's worth noting that ARNSHL can be caused by mutations in various genes, including GJB2. In some cases, the diagnosis of ARNSHL may be considered when there are abnormal results from genetic testing or other medical evaluations.

References: [8] - An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has material basis in mutation in GJB2 gene. [9] - An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has material basis in mutation in GJB2 gene. [10] - For example, autosomal recessive deafness typically presents as a congenital or prelingual, severe to profound deafness affecting all frequencies while ...

Autosomal Recessive Nonsyndromic Deafness 37, also known as DFNB37, is a form of non-syndromic sensorineural hearing loss caused by mutations in the MYO6 gene. Here are some diagnostic tests that can be used to identify this condition:

• Clinical Genetic Test: A clinical genetic test offered by Intergen can be used to diagnose autosomal recessive nonsyndromic deafness 37. This test involves analyzing the genes associated with the condition, including the MYO6 gene.
• Genetic Panel Testing: A 138-gene panel that includes assessment of non-coding variants can also be used to identify mutations in the MYO6 gene and diagnose autosomal recessive nonsyndromic deafness 37.
• CT Scan: In rare cases, a CT scan may be performed to detect malformations of the inner ear associated with this condition.

It's worth noting that genetic testing for nonsyndromic sensorineural hearing loss is heavily influenced by genetic mutations, and over 100 non-syndromic deafness genes have been identified in humans thus far [15]. In the case of autosomal recessive nonsyndromic deafness 37, biallelic mutations in the MYO6 gene are associated with this condition.

References:

• Clinical Genetic Test offered by Intergen for conditions (1): Autosomal recessive nonsyndromic hearing loss 37; Testing genes (1): MYO6 gene [context]
• A 138-gene panel that includes assessment of non-coding variants can also be used to identify mutations in the MYO6 gene and diagnose autosomal recessive nonsyndromic deafness 37 [context]
• CT Scan may be performed to detect malformations of the inner ear associated with this condition [context]

Autosomal recessive nonsyndromic deafness, also known as DFNB type, accounts for approximately 85% of all cases of non-syndromic hearing loss. As for drug treatment, there are currently no specific medications that can cure or significantly improve hearing in individuals with autosomal recessive nonsyndromic deafness.

However, researchers have been exploring various gene therapy approaches to treat this condition [2]. For example, a study published in 2024 demonstrated the effectiveness of AAV1-hOTOF gene therapy in treating unilateral hearing loss caused by autosomal recessive deafness [2].

In addition, cochlear implants or hearing aids are often used as treatment options for individuals with non-syndromic hearing loss, including those with autosomal recessive nonsyndromic deafness [6]. These devices can significantly improve communication and quality of life for affected individuals.

It's worth noting that while there is no specific drug treatment available for autosomal recessive nonsyndromic deafness, researchers are actively exploring new gene therapy approaches to treat this condition. Consultation with a healthcare professional is recommended for personalized medical advice and treatment [9].

References: [2] by H Wang · 2024 · Cited by 11 — Gene therapy is a promising approach for hereditary deafness. [6] 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, ... [9] Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. Any autosomal recessive nonsyndromic deafness in ...

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, but there are several key factors to consider in the differential diagnosis.

• Genetic testing: Genetic testing is a crucial step in diagnosing ARNSHL. Mutations in at least 30 genes have been identified in people with autosomal recessive nonsyndromic hearing loss [1]. The most common cause of moderate ARNSHL is mutations in the STRC gene, which can be detected through genetic testing [4].
• Family history: A family history of hearing loss or deafness can suggest an autosomal recessive inheritance pattern. If multiple family members have hearing loss, it may indicate a genetic component [1].
• Age of onset: ARNSHL typically presents at birth or in early childhood, with severe-to-profound hearing loss [3]. This is in contrast to other forms of hearing loss that may present later in life.
• Sensorineural vs. conductive hearing loss: ARNSHL is a form of sensorineural hearing loss, which means it affects the inner ear and auditory nerve. Conduct