autosomal recessive nonsyndromic deafness 97

Autosomal recessive nonsyndromic deafness 97, also known as DFNB97, is a form of sensorineural hearing loss that occurs before speech development. It is caused by mutations in the MET gene.

• This condition results from damage to the neural receptors of the inner ear, leading to partial or total loss of hearing.
• The hearing loss is typically prelingual, meaning it occurs before language development.
• Autosomal recessive nonsyndromic deafness 97 is a genetic disorder that is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

According to [5], Deafness, autosomal recessive 97 is a form of sensorineural hearing loss that occurs before speech development. It is caused by mutations in the MET gene. This information is also supported by [11], which states that Autosomal recessive nonsyndromic deafness 97 (DFNB97) is a genetic disorder caused by mutations in the MET gene.

The MET gene plays a crucial role in the development and function of the inner ear, and mutations in this gene can lead to hearing loss. The condition is typically diagnosed through genetic testing, which can identify the presence of the mutated gene.

It's worth noting that autosomal recessive nonsyndromic deafness 97 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 is now possible to diagnose and manage this condition more effectively.

References: [5] - Deafness, autosomal recessive 97 is a form of sensorineural hearing loss that occurs before speech development. It is caused by mutations in the MET gene. [11] - Autosomal recessive nonsyndromic deafness 97 (DFNB97) is a genetic disorder caused by mutations in the MET gene.

Autosomal recessive nonsyndromic deafness 97 (DFNB97) is a genetic disorder that affects hearing. According to the available information, individuals with this condition may experience severe to profound hearing loss from birth or early childhood.

• The hearing loss in DFNB97 is typically prelingual, meaning it occurs before language development, and can affect all frequencies [3].
• In most cases, the onset of non-syndromic deafness in patients with autosomal dominant inheritance pattern (like DFNB97) is associated with severe to profound hearing loss affecting all frequencies [6].
• The clinical spectrum of DFNB97 may range from the lack of symptoms to vertigo and deafness [2].

It's essential to note that the severity and progression of hearing loss can vary among individuals. However, in general, autosomal recessive nonsyndromic deafness 97 is characterized by severe to profound hearing loss.

References: [1] - Not applicable (this information was not provided) [2] - Context #2 [3] - Context #3 [6] - Context #6

Based on the provided context, here are some diagnostic tests and information related to autosomal recessive nonsyndromic deafness:

Newborn Hearing Screening (NBHS): NBHS is a common method used in countries where available to identify severe-to-profound hearing loss, which can be associated with autosomal recessive nonsyndromic deafness [2].

Genetic Testing: Molecular genetic testing is available for many types of syndromic and nonsyndromic deafness, including autosomal recessive nonsyndromic deafness. This test can identify variants in the GJB2 and GJB6 genes, which are commonly associated with this condition [10].

DFNB1 Locus: An estimated 50% of autosomal recessive nonsyndromic hearing loss is caused by variants in the DFNB1 locus, which includes the GJB2 and GJB6 genes. This suggests that genetic testing for these genes may be a useful diagnostic tool [10].

Other Diagnostic Tests: In addition to NBHS and genetic testing, other diagnostic tests such as audiological assessment, cranial imaging (e.g., CT scan), and TORCH screening (to investigate congenital infection) may also be used to diagnose autosomal recessive nonsyndromic deafness [6].

It's worth noting that the diagnosis of autosomal recessive nonsyndromic deafness often involves a combination of these tests, as well as clinical evaluation and family history.

Current Therapies for Autosomal Recessive Nonsyndromic Deafness

Unfortunately, there is no specific drug treatment available for autosomal recessive nonsyndromic deafness. The current therapies for hearing loss are limited to:

• Hearing Aids: Devices that amplify sound to help individuals with hearing loss communicate more effectively.
• Cochlear Implants: Medical devices that bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing individuals with severe to profound hearing loss to perceive sound.

These treatments are not curative but rather aim to improve communication skills. However, research is ongoing to explore new therapeutic approaches, including gene therapy, for treating autosomal recessive nonsyndromic deafness.

Gene Therapy: A Promising New Frontier

Recent studies have shown promising results in using gene therapy to treat autosomal recessive deafness. For example, a clinical trial of gene therapy for treating autosomal recessive deafness 9 (DFNB9) demonstrated that patients' hearing was recovered without evident adverse reactions [12]. Nevertheless, numerous challenges persist in using gene therapy for treating deafness due to the intricate structure of the cochlea.

Future Directions

While there is no specific drug treatment available for autosomal recessive nonsyndromic deafness, ongoing research and advancements in gene therapy may lead to new therapeutic options. It is essential to consult with a healthcare professional for medical advice and treatment.

References:

• [7] Current therapies for hearing loss are limited to hearing aids or cochlear implants.
• [12] Gene therapy has shown promising results in treating autosomal recessive deafness, but challenges persist.
• [13] There have been 124 non-syndromic hearing loss genes discovered to date, including 77 autosomal recessive nonsyndromic hearing loss genes.

The differential diagnosis of autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging due to its genetic heterogeneity and the presence of multiple genes involved in hearing loss. However, there are some key factors to consider when making a differential diagnosis.

• Genetic testing: Genetic testing is essential for diagnosing ARNSHL. A comprehensive panel that includes all genes implicated in nonsyndromic hearing loss can help identify the genetic cause of the condition.
• Family history: A thorough family history is crucial in identifying autosomal recessive inheritance patterns. If there is a history of consanguinity (marriage between relatives) or multiple affected individuals in the same family, it may suggest an autosomal recessive pattern.
• Age of onset: ARNSHL typically presents at birth or in early childhood, whereas autosomal dominant nonsyndromic hearing loss often presents later in life.
• Severity and progression: Autosomal recessive nonsyndromic deafness tends to cause severe, prelingual deafness involving all frequencies, whereas autosomal dominant loc