autosomal recessive nonsyndromic deafness 22

Autosomal Recessive Nonsyndromic Deafness 22 (DFNB22) is a form of non-syndromic sensorineural hearing loss caused by mutations in the OTOA gene on chromosome 16p12 [3]. It is characterized by prelingual onset with severe to profound, stable hearing loss [8][9].

This condition 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 [1][7]. The deafness is transmitted as an autosomal recessive trait in 85% of non-syndromic cases [10].

The OTOA gene plays a crucial role in the development and maintenance of the inner ear, and mutations in this gene can lead to hearing loss. DFNB22 is one of the many forms of autosomal recessive nonsyndromic deafness, which account for up to 93% of monogenic autosomal recessive traits causing prelingual hearing loss [4].

In summary, Autosomal Recessive Nonsyndromic Deafness 22 (DFNB22) is a genetic condition caused by mutations in the OTOA gene, leading to severe to profound hearing loss. It is inherited in an autosomal recessive pattern and affects the inner ear's development and maintenance.

References: [1] 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] Definition. Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene. [8] Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and ... [9] Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing ... [10] In 85% of these non-syndromic cases, the deafness is transmitted as an autosomal recessive trait (DFNB type). As most autosomal recessive loci, DFNB22 causes ...

Autosomal recessive nonsyndromic deafness, also known as autosomal recessive hearing loss, is a type of hearing impairment that is not associated with any other signs or symptoms. However, based on the search results, here are some clinical features and characteristics of this condition:

• Prelingual onset: Autosomal recessive nonsyndromic deafness typically begins before language development, meaning that affected individuals may be born with hearing loss or develop it in early childhood.
• Bilateral involvement: This type of hearing loss usually affects both ears, although the degree of impairment can vary between the two ears.
• Mild to moderate severity: Autosomal recessive nonsyndromic deafness is typically characterized by mild to moderate hearing loss, which may be stable over time.

It's worth noting that some individuals with autosomal recessive nonsyndromic deafness may not exhibit any noticeable symptoms or signs of the condition. However, in some cases, affected individuals may experience:

• Global developmental delay: Some people with autosomal recessive nonsyndromic deafness may experience delays in cognitive and motor development.
• Absent brainstem auditory responses: This is a specific type of hearing test that measures the response of the brain's auditory system to sound stimuli. In some cases, individuals with autosomal recessive nonsyndromic deafness may have absent or abnormal brainstem auditory responses.

Overall, autosomal recessive nonsyndromic deafness is a relatively common cause of hearing loss, and its characteristics can vary widely between affected individuals [1][4][5].

Based on your query, I will provide an informative and relevant response.

Understanding Non-Syndromic Hearing Loss

Non-syndromic hearing loss refers to a partial or total loss of hearing that is not associated with other signs and symptoms. This type of hearing loss can be caused by various genetic mutations, including those affecting the OTOA gene on chromosome 16p12.

Causes and Characteristics

The ideal candidates for an OTOA test are individuals who present with prelingual (early-onset), bilateral, severe to profound, nonprogressive, autosomal recessive hearing loss. This condition is also known as Deafness, autosomal recessive 22 (DFNB22).

Diagnostic Testing

Diagnostic testing for DFNB1-associated hearing impairment is technically simple and has a high success rate. Exome-based NextGen sequencing with CNV analysis is the favored testing approach, allowing for cost-effective reflexing to PGxome or other exome-based tests.

Importance of Genomic Testing

Genomic testing is crucial in identifying the underlying cause of non-syndromic hearing loss. Different variants in the same gene can cause different forms of hearing loss, highlighting the importance of precise diagnosis.

ICD-9 Codes for Nasal Sinus Procedures

For more specific diagnoses related to nasal sinus procedures, ICD-9 codes such as 22.0 (aspiration and lavage), 22.1 (diagnostic procedures on nasal sinus), and others are used.

Conclusion

Non-syndromic hearing loss is a complex condition that requires precise diagnosis through genetic testing. Understanding the causes and characteristics of this condition can help healthcare professionals provide accurate diagnoses and develop effective treatment plans.

References:

• [2] Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms.
• [6] Deafness, autosomal recessive 22 is a form of non-syndromic sensorineural hearing loss caused by mutations in the OTOA gene on chromosome 16p12.
• [4] Our favored testing approach is exome based NextGen sequencing with CNV analysis.
• [9] Diagnostic testing for DFNB1-associated hearing impairment is technically simple compared with many diagnostic tests and has a high success rate.
• [8] There are two important genomic testing considerations: identifying the underlying cause of non-syndromic hearing loss and understanding how different variants in the same gene can cause different forms of hearing loss.

Unfortunately, there isn't a specific drug treatment available for autosomal recessive nonsyndromic deafness (ARNSHL). However, researchers are exploring various gene therapy approaches to treat this condition.

According to search result [8], while no pharmacological treatment is currently available for congenital deafness, including ARNSHL, researchers have reported the safety and efficacy of gene therapy in treating hereditary deafness. Gene therapy involves using a virus (such as an adeno-associated virus) to deliver a healthy copy of the faulty gene to the inner ear.

Additionally, search result [6] mentions that gene therapy based on AAVs is rapidly becoming a new method for the treatment of hereditary deafness, including ARNSHL. However, it's essential to note that this approach is still in its early stages and more research is needed to fully understand its potential benefits and risks.

It's also worth noting that search result [10] mentions that patients with mild and moderate hearing loss can only use hearing aids, while those with severe or profound hearing loss may benefit from cochlear implants. However, these treatments do not address the underlying genetic cause of ARNSHL.

In summary, while there is no specific drug treatment available for autosomal recessive nonsyndromic deafness, researchers are exploring gene therapy approaches to treat this condition. Further research is needed to fully understand the potential benefits and risks of these emerging therapies.

References: [8] Jan 24, 2024 — However, no pharmacological treatment is currently available for congenital deafness. In this Article, we report the safety and efficacy of gene ... [6] by D Brotto · 2024 — Gene therapy based on AAVs is rapidly becoming a new method for the treatment of hereditary deafness, but the road to complete and effective clinical ... [10] by Y Feng · 2023 · Cited by 1 — Approaches to reversing or preventing genetic hearing loss are limited. Patients with mild and moderate hearing loss can only use hearing aids, while those with ...

Autosomal recessive nonsyndromic deafness (ARNSD) can be challenging to diagnose, but there are several key factors to consider in making a differential diagnosis. Here are some possible conditions that may need to be ruled out:

• DFNB22: This is the specific condition mentioned in the query, which is caused by mutations in an unknown gene and leads to severe-to-profound hearing loss.
• Other autosomal recessive deafnesses: There are several other forms of autosomal recessive deafness that may need to be considered, such as DFNB1, DFNB2, and others. These conditions can also cause severe hearing loss and may have similar genetic causes.
• Syndromic hearing losses: While ARNSD is non-syndromic, some syndromic hearing losses may present with similar symptoms or genetic causes. For example, Usher syndrome (a condition that affects both hearing and vision) can be caused by mutations in the CDH23 gene, which is also implicated in autosomal recessive hearing loss.
• Other genetic conditions: There are many other genetic conditions that can cause hearing loss, such as mitochondrial deafness or deafness caused by mutations in other genes. These conditions may need to be ruled out through further testing and evaluation.

To make a differential diagnosis of ARNSD22, it would be essential to consider the following factors:

• Family history: A thorough family history is crucial in identifying patterns of inheritance and potential genetic causes.
• Genetic testing: Genetic testing can help identify mutations in specific genes associated with hearing loss.
• Audiological evaluation: A comprehensive audiological evaluation, including hearing tests and speech audiometry, can provide essential information about the extent and nature of the hearing loss.
• Medical history: A thorough medical history is also important to rule out other potential causes of hearing loss.

By considering these factors and ruling out other possible conditions, a differential diagnosis of ARNSD22 can be made. However, further research and testing may still be necessary to confirm the specific genetic cause of this condition.

References:

• [1] (context 2) - This source mentions that any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene.
• [4] (context 4) - This source provides information on how nonsyndromic hearing loss can be classified, including by the condition's pattern of inheritance: autosomal.
• [5] (context 5) - This source mentions that some genes are implicated in both non-syndromic and syndromic hearing loss – for example, CDH23 is implicated in autosomal recessive hearing loss.
• [6] (context 6) - This source provides information on how deafness is transmitted as an autosomal recessive trait (DFNB type).
• [7] (context 7) - This source mentions that autosomal recessive nonsyndromic deafness, on the other hand, is congenital or prelingual, and most of the time it leads to severe hearing loss.
• [8] (context 8) - This source provides information on how autosomal recessive nonsyndromic deafness was noted to frequently have manifestation before speech development (prelingual deafness).
• [10] (context 10) - This source mentions that hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms.