autosomal recessive nonsyndromic deafness 24

Autosomal Recessive Nonsyndromic Deafness 24 (DFNB24) is a form of non-syndromic sensorineural hearing loss caused by mutations in the RDX gene on chromosome 11q22 [5]. It is characterized by prelingual onset with severe to profound, stable hearing loss [8][9].

The 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 [4]. The RDX gene plays a crucial role in the development and maintenance of the inner ear, and mutations in this gene can lead to hearing loss.

DFNB24 is a rare form of hearing loss, and its symptoms typically manifest before a person reaches language age. The hearing loss associated with DFNB24 is usually severe to profound and stable, meaning that it does not worsen over time [8][9].

It's worth noting that the RDX gene has been identified as the causative gene for DFNB24 through genetic studies [2]. A novel splice site mutation in the RDX gene was found to cause DFNB24 in an Iranian family [2].

References: [1] Not applicable [2] A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. AmJ Med Genet. 2009;149A:555–558. doi: 10.1002/ajmg.a.32670 [2] [4] Non-syndromic hearing loss is inherited in one of the following patterns: autosomal recessive, autosomal dominant, X-linked, and mitochondrial. [5] Deafness, autosomal recessive 24 is a form of non-syndromic sensorineural hearing loss caused by mutations in the RDX gene on chromosome 11q22. It is ... [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 (ARNSHL) is a type of hearing loss that is not associated with other signs and symptoms, and is inherited in an autosomal recessive pattern. The signs and symptoms of ARNSHL can vary from person to person, but typically include:

• Congenital or prelingual severe to profound deafness: This means that the individual is born with significant hearing loss or develops it at a very young age (before language development) [1].
• Deafness affecting all frequencies: In most cases, ARNSHL presents as a congenital or prelingual, severe to profound deafness affecting all frequencies [9].
• Lack of other signs and symptoms: Unlike syndromic hearing loss, ARNSHL is not associated with other physical or developmental abnormalities [2].

It's worth noting that the diagnosis of GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) should be considered in two scenarios: an abnormal audiogram and a family history of similar hearing loss [6].

Autosomal recessive nonsyndromic deafness 24, also known as Deafness, autosomal recessive 24 (DFNA24), is a genetic disorder that affects hearing. Diagnostic tests for this condition are crucial in identifying the underlying cause of the hearing loss.

Available Genetic Tests

According to search results [1], available genetic tests from the US can help diagnose Autosomal recessive nonsyndromic deafness 24. These tests can identify mutations in the RDX gene, which is associated with this condition.

Diagnostic Test or Carrier Screening

An estimated 50% of autosomal recessive nonsyndromic hearing loss cases are caused by mutations in the GJB2 gene [6]. Diagnostic test or carrier screening for GJB2-related nonsyndromic hearing loss can help identify individuals who carry a mutation in this gene.

Molecular Genetic Testing

Recent progress in identifying genes responsible for hearing loss enables molecular diagnosis by genetic testing [9]. This approach can help establish a diagnosis of autosomal recessive nonsyndromic deafness 24 and other hereditary hearing loss conditions.

Genetic Panel Testing

The Non-Syndromic Hearing Loss Panel, which includes the RDX gene, can be used to identify mutations associated with autosomal recessive nonsyndromic deafness 24 [3]. This panel testing can provide a comprehensive diagnosis of this condition and other related hearing loss disorders.

References:

[1] Clinical resource with information about Autosomal recessive nonsyndromic hearing loss 24 and its clinical features, RDX, available genetic tests from US ...

[3] Genes in the Non-Syndromic Hearing Loss Panel and their clinical significance ; RDX*, Deafness, autosomal recessive 24, AR ; S1PR2, Deafness, autosomal recessive ...

[6] Oct 24, 2024 — An estimated 50% of autosomal recessive nonsyndromic hearing loss ... Diagnostic test or carrier screening for GJB2-related nonsyndromic ...

[9] by LX Zhong · 2013 · Cited by 28 — Recent progress in identifying genes responsible for hearing loss enables otolaryngologists and other clinicians to apply molecular diagnosis by genetic testing ...

Autosomal recessive nonsyndromic deafness, also known as DFNB type, accounts for approximately 85% of all 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 unilateral hearing loss caused by mutations in the OTOF gene [2]. This treatment involves delivering a healthy copy of the OTOF gene to the inner ear using an adeno-associated virus (AAV) vector.

While this is a promising area of research, it's essential to note that gene therapy is still in its early stages, and more studies are needed to fully understand its potential benefits and risks. Additionally, treatment may sometimes be proposed for some forms of conductive hearing loss, but this is not directly related to autosomal recessive nonsyndromic deafness [5].

Currently, the most common treatments for autosomal recessive nonsyndromic deafness are cochlear implants or hearing aids, which can significantly improve communication and quality of life for individuals with this condition [6]. However, these treatments do not address the underlying genetic cause of the hearing loss.

It's crucial 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 and provide guidance on available treatment options [9].

References: [2] Wang et al. (2024) Gene therapy is a promising approach for hereditary deafness. [5] Search result 5 [6] Jiang et al. (2023) To date, more than 150 deafness genes have been recognized to be associated with HHL. [9] Search result 9

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, as it often presents with hearing loss as the only symptom. However, there are several genes and loci that have been associated with ARNSHL, which can aid in differential diagnosis.

Common causes of ARNSHL:

• Mutations in the GJB2 gene (also known as DFNB1) are the most common cause of congenital severe-to-profound non-progressive sensorineural hearing loss. [3][12]
• Mutations in the STRC gene have been identified as a common cause of moderate autosomal recessive nonsyndromic hearing loss. [2][5]

Other genes and loci associated with ARNSHL:

• RDX gene mutations at the DFNB24 locus can cause nonsyndromic hearing loss. [4]
• Mutations in the TBC1D24 gene have been associated with dominant nonsyndromic hearing loss,