autosomal recessive nonsyndromic deafness 18A

Autosomal Recessive Nonsyndromic Deafness 18A: A Rare Form of Hearing Loss

Autosomal recessive nonsyndromic deafness 18A, also known as DFNB18A, is a rare form of non-syndromic sensorineural hearing loss caused by mutations in the USH1C gene on chromosome 11p15 [4]. This condition is characterized by prelingual onset with severe to profound, stable hearing loss [8][9].

Key Features:

• Inheritance Pattern: Autosomal recessive inheritance pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [2].
• Hearing Loss: Severe to profound, stable hearing loss, typically present at birth or early childhood [8][9].
• Genetic Cause: Mutations in the USH1C gene on chromosome 11p15 [3][4].

Other Forms of Nonsyndromic Hearing Loss:

It's worth noting that nonsyndromic hearing loss can also be inherited in an autosomal dominant pattern, with mutations in at least 30 genes identified in people with this condition [2]. Another form of autosomal recessive deafness designated DFNB18B is caused by mutation in the OTOG gene on chromosome 11p15 [6].

References:

[1] Clinical resource with information about Autosomal recessive nonsyndromic hearing loss 18A and its clinical features, USH1C, available genetic tests from US...

[2] Feb 1, 2016 — Nonsyndromic hearing loss can also be inherited in an autosomal dominant pattern. Mutations in at least 30 genes have been identified in people...

[3] Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.

[4] Deafness, autosomal recessive 18a is a form of non-syndromic sensorineural hearing loss caused by mutations in the USH1C gene on chromosome 11p15.

[5] autosomal recessive nonsyndromic deafness 18A · ICD10CM:H90.3 · MIM:602092.

[6] A form of autosomal recessive deafness designated DFNB18B (614945), which also maps to chromosome 11p15, is caused by mutation in the OTOG gene (604487).

[7] Title: Autosomal recessive nonsyndromic hearing loss 18A Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a...

[8] Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing...

[9] Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and...

Autosomal recessive nonsyndromic deafness 18A (DFNB18A) is a genetic condition that affects hearing. According to the available information, this condition is characterized by prelingual onset with usually stable hearing loss [6].

The signs and symptoms of autosomal recessive nonsyndromic deafness 18A may include:

• Prelingual hearing loss: This means that the hearing loss occurs before a person can develop language skills.
• Stable hearing loss: The hearing loss in individuals with DFNB18A is usually stable, meaning it does not worsen over time.

It's worth noting that autosomal recessive nonsyndromic deafness 18A is caused by homozygous mutation in the gene responsible for this condition [5][7].

References: [5] A number sign (#) is used with this entry because of evidence that nonsyndromic autosomal recessive deafness-18A (DFNB18A) is caused by homozygous mutation ... [6] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has material basis in mutation in ... [7] A number sign (#) is used with this entry because of evidence that nonsyndromic autosomal recessive deafness-18A (DFNB18A) is caused by homozygous mutation ...

Based on the provided context, here are some diagnostic tests associated with autosomal recessive nonsyndromic deafness 18A:

• Genetic testing: Genetic testing can be used to diagnose autosomal recessive nonsyndromic deafness 18A. This involves analyzing the USH1C gene for mutations [5].
• Clinical genetic testing panels: Some clinical genetic testing panels, such as those offered by C R O G (Clinical Resource On Genetics), include information on autosomal recessive nonsyndromic hearing loss 18A and its clinical features [8][15].
• Combined panel for Congenital hearing impairment: A combined panel for Congenital hearing impairment includes genetic testing for conditions such as Autosomal dominant deafness, which may be relevant to the diagnosis of autosomal recessive nonsyndromic deafness 18A [8].

It's worth noting that the information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional [7]. Individuals should consult with a qualified healthcare provider for accurate and personalized advice.

References: [5] - Deafness, autosomal recessive 18a is a form of non-syndromic sensorineural hearing loss caused by mutations in the USH1C gene on chromosome 11p15. [7] - The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. [8] - This is a combined panel for Congenital hearing impairment (profound/severe) and includes: - Autosomal dominant deafness - Congenital hearing impairment [15] - Clinical resource with information about Autosomal recessive nonsyndromic hearing loss 1A and its clinical features, GJB2, GJB3, ...

Current Management Options for Autosomal Recessive Nonsyndromic Deafness 18A

Unfortunately, there is no specific medication to treat autosomal recessive nonsyndromic hearing loss 18A (DFNB18A) [6]. The management of this condition typically involves the use of hearing aids and other assistive devices to help improve communication and quality of life.

Current Treatment Options:

• Hearing aids: These can be custom-made to fit an individual's specific needs and can significantly improve speech recognition in noisy environments.
• Cochlear implants: In some cases, cochlear implants may be recommended for individuals with severe or profound hearing loss. These devices bypass damaged parts of the ear and directly stimulate the auditory nerve.
• Assistive listening devices: These can include FM systems, infrared systems, and other technologies that help improve sound quality in various environments.

Future Treatment Options:

While there is currently no specific medication to treat autosomal recessive nonsyndromic hearing loss 18A, researchers are actively exploring new treatment options, including gene therapy. Gene therapy has shown promise in treating certain forms of deafness by introducing healthy copies of the affected gene into the inner ear [12-16].

References:

[6] Currently, there is no specific medication to treat autosomal recessive nonsyndromic hearing loss 18A (DFNB18A). Management typically involves the use of ... [12-16] Notably, in clinical trials of gene therapy for treating autosomal recessive deafness 9 (DFNB9), the patients' hearing was recovered without evident adverse reactions.

The differential diagnosis of autosomal recessive nonsyndromic deafness 18A (DFNA18A) involves distinguishing it from other forms of hearing loss.

According to the available information, DFNA18A is a form of non-syndromic sensorineural hearing loss caused by mutations in the USH1C gene on chromosome 11p15 [5]. This condition can be challenging to diagnose due to its similarity with other types of hearing loss.

Some factors that may aid in the differential diagnosis of DFNA18A include:

• Genetic testing: Genetic analysis can help identify mutations in the USH1C gene, confirming a diagnosis of DFNA18A [5].
• Family history: A family history of hearing loss or other genetic conditions can suggest an autosomal recessive inheritance pattern.
• Clinical characteristics: Patients with DFNA18A typically present with congenital or prelingual, severe-to-profound bilateral deafness without inner-ear anomalies.

It's essential to note that differential diagnosis may be difficult in some cases, and it has been shown that both syndromic and nonsyndromic hearing loss can be caused by mutations in the same gene [15].

To confirm a diagnosis of DFNA18A, genetic testing and clinical evaluation are necessary. A comprehensive diagnostic approach, including genetic analysis and family history assessment, is crucial for accurate differential diagnosis.

References:

[5] - Deafness, autosomal recessive 18a is a form of non-syndromic sensorineural hearing loss caused by mutations in the USH1C gene on chromosome 11p15. [15] - In some cases, differential diagnosis of SHL and NSHL is very difficult, or even not possible. Furthermore, it has been shown that, both SHL and NSHL can be caused by the mutations in the same gene.