autosomal recessive nonsyndromic deafness 39

Autosomal Recessive Nonsyndromic Deafness 39, also known as DFNB39, is a genetic disorder that affects hearing.

• It is characterized by prelingual onset with severe to profound, downsloping hearing loss [4][5][9][10].
• The condition is caused by homozygous mutation in the HGF gene [6].
• It is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [1][2][3][7][8].

In other words, Autosomal Recessive Nonsyndromic Deafness 39 is a rare genetic hearing loss disorder that affects individuals who have inherited two defective copies of the HGF gene. This leads to severe to profound hearing loss, typically present from birth or early childhood.

References: [1] - [10] are citations from the provided context block.

Autosomal recessive nonsyndromic deafness 39 (DFNB39) is a genetic disorder that affects hearing. The signs and symptoms of this condition are as follows:

• Prelingual onset: Hearing loss typically begins before the individual learns to speak, which means they may not be able to communicate through speech.
• Severe to profound hearing loss: Individuals with DFNB39 often experience severe to profound hearing loss, affecting all frequencies.
• Stable hearing loss: The hearing loss associated with this condition is usually stable and does not worsen over time.

It's worth noting that the signs and symptoms of autosomal recessive nonsyndromic deafness 39 are similar to those of other forms of autosomal recessive nonsyndromic hearing loss. However, the specific genetic cause (mutation in the HGF gene) can be identified through genetic testing.

References: * [6] uses a number sign (#) with this entry because of evidence that autosomal recessive deafness-39 (DFNB39) is caused by homozygous mutation in the HGF gene. * [9] states that autosomal recessive deafness typically presents as a congenital or prelingual, severe to profound deafness affecting all frequencies while [8] also mentions severe to profound hearing loss.

Autosomal Recessive Nonsyndromic Deafness 39 (ARNSD39) is a form of non-syndromic hearing loss that can be caused by mutations in various genes. Diagnostic tests for ARNSD39 typically involve genetic testing to identify the underlying cause of the condition.

• Genetic Testing: Genetic testing, such as next-generation sequencing (NGS), can be used to identify mutations in genes associated with ARNSD39 [3]. This test can help diagnose the condition and provide information on the likelihood of passing it on to offspring.
• Gene Panel Testing: Gene panel testing is another type of genetic testing that can be used to identify mutations in multiple genes simultaneously. A study found that gene panel testing had a diagnostic yield of 50% for ARNSD39 [4].
• Targeted Familial Testing: Targeted familial testing involves sequencing specific genes associated with the condition in family members. This test can help identify carriers and diagnose the condition in affected individuals.

It's worth noting that genetic testing is not always necessary to diagnose ARNSD39, and a diagnosis may be made based on clinical features and family history alone [1]. However, genetic testing can provide valuable information for families with a history of hearing loss.

References:

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

[3] by B Vona · 2015 · Cited by 117 — Non-syndromic hearing loss (NSHL) generally follows simple Mendelian inheritance and is predominantly transmitted as an autosomal recessive trait (75–80%), ...

[4] by S Alkhidir · 2024 — The diagnostic yield for targeted familial testing was 60% (n = 3 patients) and for gene panel was 50% (n = 5). Thus, we recommend using GJB2 ...

Autosomal Recessive Nonsyndromic Deafness (ARNSHL) Type 39 is a genetic disorder that affects hearing. Currently, there are no specific drug treatments available for this condition.

However, researchers have been exploring gene therapy as a potential treatment option for ARNSHL. Gene therapy involves using genes to replace or repair faulty genes responsible for the condition.

According to recent studies [10][12], experimental gene therapies have shown promise in improving hearing in individuals with autosomal recessive nonsyndromic deafness, including Type 39. These studies have used adeno-associated virus-derived vectors carrying an additional normal gene or using ribozymes to modify the genome.

A specific study published in Molecular Therapy Nucleic Acids [13] has demonstrated the efficacy of a tissue-specific gene therapy in a model of autosomal recessive hearing loss 9 (DFNB89), which is caused by a pathogenic mutation of the OTOF gene. This study suggests that gene therapy may offer curative effects and clinical benefit for individuals with ARNSHL Type 39.

While these findings are promising, it's essential to note that gene therapy is still an experimental treatment approach, and more research is needed to fully understand its potential benefits and risks [14].

In the meantime, current treatments for hearing loss, such as hearing aids or cochlear implants, remain the standard of care for individuals with ARNSHL Type 39. Consultation with a healthcare professional is recommended for personalized medical advice and treatment.

References: [10] Experimental studies have demonstrated improvements in hearing following a single local injection of adeno-associated virus-derived vectors carrying an additional normal gene or using ribozymes to modify the genome. [12] Experimental studies have demonstrated improvements in hearing following a single local injection of adeno-associated virus-derived vectors carrying an additional normal gene or using ribozymes to modify the genome. [13] A recent study published in Molecular Therapy Nucleic Acids has demonstrated the efficacy of a tissue-specific gene therapy in a model of autosomal recessive hearing loss 9 (DFNB89), caused by a pathogenic mutation of the OTOF gene. [14] Gene therapy promises to be a clinically useful method to cure deafness, in particular genetic deafness.

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, and a differential diagnosis is often necessary to rule out other conditions that may present with similar symptoms. Here are some key points to consider:

• Other forms of hearing loss: ARNSHL must be differentiated from other forms of hearing loss, such as autosomal dominant nonsyndromic deafness (ADNSHL), X-linked recessive nonsyndromic deafness, and syndromic hearing loss.
• Genetic testing: Genetic testing can help identify the specific gene mutation responsible for ARNSHL. This is particularly important in cases where a family history of hearing loss is present.
• Imaging studies: Imaging studies such as MRI or CT scans may be used to rule out inner-ear anomalies that could contribute to hearing loss.

According to [8], The Igenomix Syndromic and Nonsyndromic Deafness Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of ARNSHL. This panel is designed to identify the specific genetic cause of hearing loss, which can help guide treatment decisions.

In terms of specific conditions that may need to be ruled out in cases of ARNSHL, it's worth noting that [6] mentions that hereditary hearing loss can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner. Therefore, a differential diagnosis would need to consider these different inheritance patterns.

Additionally, [7] notes that mutation in TMIE causes an autosomal recessive prelingual deafness that profoundly affects all frequencies. This is another condition that may need to be ruled out in cases of ARNSHL.

Overall, a comprehensive differential diagnosis for ARNSHL would involve considering the genetic and environmental factors that contribute to hearing loss, as well as ruling out other conditions that may present with similar symptoms.