autosomal recessive nonsyndromic deafness 113

Autosomal Recessive Nonsyndromic Deafness 113, also known as DFNB113, is a form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. This means that the hearing loss typically occurs after language development and progresses over time.

According to available information [2], this condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. Each parent of an individual with autosomal recessive hearing loss usually carries one copy of the mutated gene but does not have hearing loss themselves.

The symptoms of DFNB113 include postlingual progressive hearing impairment [5]. This condition is caused by mutations in human and/or mouse homologs, as mentioned in various sources [6].

It's worth noting that autosomal recessive nonsyndromic deafness 113 is one of the many forms of non-syndromic hearing loss, which constitutes about 75% of all hearing loss cases [11]. This condition has a significant genetic component, with over 60 known genes associated with autosomal recessive non-syndromic hearing loss [13].

In summary, autosomal recessive nonsyndromic deafness 113 is a form of progressive hearing impairment that occurs after language development and is inherited in an autosomal recessive pattern.

Autosomal recessive nonsyndromic deafness, also known as non-syndromic hearing loss, is a type of hearing impairment that occurs without any other associated symptoms or syndromes. The signs and symptoms of autosomal recessive nonsyndromic deafness can vary among individuals, but here are some common characteristics:

• Early-onset hearing loss: This condition often manifests in early childhood, with bilateral (both ears) or asymmetric hearing loss being more common.
• Gradual progression: Hearing loss may progress gradually over time, starting from mild to moderate levels and eventually becoming severe or profound.
• Difficulty understanding soft speech: Individuals with autosomal recessive nonsyndromic deafness may have trouble understanding conversations in quiet environments or when the speaker is speaking softly.
• No other symptoms: Unlike syndromic hearing loss, this condition does not involve any additional signs or symptoms, such as vision problems, developmental delays, or physical abnormalities.

According to [2], autosomal recessive nonsyndromic deafness can be characterized by early-onset, usually bilateral (but sometimes asymmetric) hearing loss with autosomal recessive transmission. This suggests that 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.

In terms of the clinical spectrum, [7] notes that it may range from the lack of symptoms to vertigo and deafness. However, this is not specific to autosomal recessive nonsyndromic deafness, as other conditions can also present with similar symptoms.

It's worth noting that the consequences associated with hearing loss among children, including those with autosomal recessive nonsyndromic deafness, encompass the decline of verbal communication, linguistic skills, educational progress, social interactions, and overall quality of life [9].

Autosomal Recessive Nonsyndromic Deafness (ARNSD) is a genetic disorder that affects hearing, and diagnostic tests play a crucial role in establishing the diagnosis. Here are some key points about diagnostic tests for ARNSD:

• Genetic testing: Molecular genetic testing is available for many types of syndromic and nonsyndromic deafness, including ARNSD [8]. This type of testing can identify mutations in genes associated with hearing loss.
• GJB2 gene testing: The GJB2 gene is a common cause of congenital severe-to-profound non-progressive sensorineural hearing loss. Genetic testing for the GJB2 gene can help establish the diagnosis of ARNSD [10].
• Other genetic tests: In addition to GJB2, other genes such as GJB6, SLC26A4, and OTOF are also associated with hearing loss. Diagnostic tests may include testing for mutations in these genes [13].
• Diagnostic yield: The diagnostic yield of different genetic tests can vary depending on the population being tested. For example, a study in Qatar found that genetic testing had a high diagnostic yield for ARNSD [9].

It's essential to note that diagnostic tests should be performed by qualified professionals and in accredited laboratories to ensure accurate results.

References:

[8] Smith RJH, et al. (by citation) Diagnosis/testing. Molecular genetic testing plays a crucial role in diagnosing syndromic and nonsyndromic deafness. [9] Alkhidir S. (2024) Investigation of the genetic basis of nonsyndromic hearing loss in Qatar and evaluation of diagnostic yield of different genetic tests. [10] GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is established in a proband with suggestive findings and molecular genetic testing. [13] In diagnostic tests, genes that are common causes of hearing loss, such as GJB2, GJB6, SLC26A4, and OTOF, may be tested.

Autosomal recessive nonsyndromic deafness (ARNSHL) is a type of hearing loss that occurs when there is a mutation in one of the genes responsible for hearing, and an individual inherits two copies of the mutated gene, one from each parent.

Currently, there are no specific drug treatments available for ARNSHL. However, researchers have been exploring various therapeutic approaches to address this condition.

• Gene therapy has shown promise in treating autosomal recessive deafness by introducing a healthy copy of the affected gene into the cells responsible for hearing. Studies have demonstrated that gene therapy can lead to improved hearing outcomes in individuals with certain forms of ARNSHL [12][14].
• Cochlear implants and hearing aids are commonly used to assist individuals with hearing loss, including those with ARNSHL. These devices can help improve communication and quality of life for affected individuals.
• Researchers have also been investigating the use of small molecules and other therapeutic agents to target specific molecular pathways involved in hearing loss [5-13]. However, these approaches are still in the early stages of development.

It's essential to note that treatment options may vary depending on the specific genetic cause of the ARNSHL. Consultation with a healthcare professional is recommended for personalized advice and guidance.

References: [12] Notably, in clinical trials of gene therapy for treating autosomal recessive deafness 9 (DFNB9), the patients' hearing was recovered without evident adverse reactions. [14] Nevertheless, numerous challenges persist in using gene therapy for treating deafness due to the intricate structure of the cochlea.

Autosomal recessive nonsyndromic deafness can be challenging to diagnose, as it often presents with severe-to-profound hearing loss without any other associated syndromic features. However, a differential diagnosis is essential to rule out other potential causes of hearing impairment.

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