autosomal recessive nonsyndromic deafness 14

Autosomal Recessive Nonsyndromic Deafness 14 (ARND14) is a genetic condition characterized by nonsyndromic deafness, meaning it affects hearing without any other associated symptoms or syndromes.

Causes and Genetics

This condition is caused by variations in the chromosome region 7q31 between D7S554 and D7S2459. It is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

Prevalence and Impact

While specific information on the prevalence of ARND14 is not provided, it is worth noting that genetic hearing loss accounts for more than 50% of prelingual hearing loss cases, with up to 93% being monogenic autosomal recessive traits [3].

Key Points

• Nonsyndromic deafness
• Autosomal recessive inheritance pattern
• Caused by variations in the chromosome region 7q31 between D7S554 and D7S2459
• Requires two copies of the mutated gene to express the condition

References: [1] - [4], [6], [8]

Note: The information provided is based on the search results and may not be an exhaustive or definitive description of ARND14.

Autosomal recessive nonsyndromic deafness, also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), is a type of hearing loss that occurs when two copies of an abnormal gene are inherited on a non-sex chromosome. The signs and symptoms of ARNSHL can vary from person to person, but here are some common ones:

• Early-onset hearing loss: Hearing loss typically begins in childhood or adolescence, with the majority of cases occurring before the age of 20 [1].
• Bilateral hearing loss: Hearing loss is usually bilateral, meaning it affects both ears, although it can be asymmetric [2].
• Malformations of the inner ear: In some cases, malformations of the inner ear can be detected by CT scan [3].
• Variable progression: The progression of hearing loss can vary from person to person, with some experiencing a gradual decline in hearing over time and others experiencing a more rapid decline [4].

It's worth noting that ARNSHL is often associated with other genetic conditions, such as vestibular areflexia (a condition affecting the inner ear), but not eye symptoms [5]. However, the exact signs and symptoms can vary depending on the specific gene involved.

References:

[1] Context 4 [2] Context 3 [3] Context 3 [4] Context 4 [5] Context 14

Autosomal Recessive Nonsyndromic Deafness 14 (ARNSD14) is a genetic disorder that affects hearing. Here are some diagnostic tests that may be used to identify ARNSD14:

1. Genetic testing: This involves analyzing DNA samples from an individual or their family members to look for mutations in the genes associated with ARNSD14.
2. Auditory brainstem response (ABR) testing: This test measures the electrical activity of the auditory nerve and brainstem in response to sound stimuli. It can help identify hearing loss and may be used to confirm a diagnosis of ARNSD14.
3. Otoacoustic emission (OAE) testing: This non-invasive test measures the sounds produced by the inner ear in response to sound stimulation. It can help identify hearing loss and may be used to confirm a diagnosis of ARNSD14.
4. High-frequency audiometry: This test assesses an individual's ability to hear high-frequency sounds, which are often affected in individuals with ARNSD14.
5. Genetic panel testing: This involves analyzing DNA samples for mutations in multiple genes associated with hearing loss, including those that cause ARNSD14.
6. Next-generation sequencing (NGS): This is a genetic testing technique that can analyze an individual's entire genome or specific regions of interest to identify mutations associated with ARNSD14.

Some specific genetic tests that may be used to diagnose ARNSD14 include:

• GJB2 gene analysis: Mutations in the GJB2 gene are a common cause of autosomal recessive nonsyndromic deafness 14.
• SLC26A4 gene analysis: Mutations in the SLC26A4 gene can also cause ARNSD14.
• Other genetic tests: Depending on an individual's family history and other factors, additional genetic tests may be recommended to rule out other causes of hearing loss.

It's essential to consult with a qualified healthcare professional or a genetic counselor to determine the most appropriate diagnostic tests for an individual suspected of having ARNSD14.

Based on the context provided, it appears that there are some promising developments in the treatment of autosomal recessive nonsyndromic deafness (ARNSHL) through gene therapy.

According to point 13 in the context, "Notably, in clinical trials of gene therapy for treating autosomal recessive deafness 9 (DFNB9), the patients' hearing was recovered without evident adverse reactions."

Additionally, point 14 mentions that an interim analysis of a single-arm trial in 5 children with hereditary deafness shows that binaural AAV gene therapy is safe and leads to hearing improvement up to 13-26 weeks of follow-up.

However, it's also mentioned in point 13 that "numerous challenges persist in using gene therapy for treating deafness due to the intricate structure of the cochlea."

Therefore, while there are some promising developments in the treatment of ARNSHL through gene therapy, more research is needed to overcome the challenges associated with this approach.

Here's a summary:

• Gene therapy shows promise in treating autosomal recessive nonsyndromic deafness (ARNSHL)
• Clinical trials have shown safety and efficacy in improving hearing in some cases
• However, challenges persist due to the intricate structure of the cochlea, requiring further research

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, as it often presents with similar symptoms to other forms of hearing loss. However, there are several key factors that can help in making a differential diagnosis:

• Pattern of inheritance: ARNSHL is typically inherited in an autosomal recessive pattern, meaning that the individual must inherit two copies of the mutated gene (one from each parent) to express the condition [1][2].
• Age of onset: ARNSHL often presents with early-onset hearing loss, usually before the age of 5 [3]. In contrast, other forms of hearing loss may present later in life.
• Bilateral involvement: ARNSHL typically affects both ears, although it can be asymmetric [4].
• Sensorineural hearing loss: ARNSHL is characterized by sensorineural hearing loss, which involves damage to the inner ear or auditory nerve [5].

To rule out other potential causes of hearing loss, a comprehensive differential diagnosis should consider:

• Syndromic forms of deafness: These are conditions where hearing loss is associated with other physical anomalies. Examples include Usher syndrome and Pendred syndrome.
• Autosomal dominant nonsyndromic deafness: This form of hearing loss can also present with early-onset, bilateral sensorineural hearing loss, but it typically follows an autosomal dominant pattern of inheritance [6].
• X-linked recessive nonsyndromic deafness: This is a rare form of hearing loss that affects males more frequently than females and is caused by mutations in genes located on the X chromosome.
• Environmental factors: Exposure to loud noises, certain medications, or infections can also cause hearing loss.

A thorough medical history, physical examination, and genetic testing (such as DNA sequencing) are essential for making an accurate differential diagnosis of ARNSHL.