autosomal recessive nonsyndromic deafness 28

Autosomal Recessive Nonsyndromic Deafness 28 (ARNSD28) is a form of non-syndromic sensorineural hearing loss caused by mutations in the TRIOBP gene on chromosome 22q13. This condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations.

Causes and Inheritance

ARNSD28 is a genetic disorder that affects the hearing ability of individuals who inherit two mutated copies of the TRIOBP gene. The mutation in this gene leads to a malfunctioning protein that plays a crucial role in maintaining the structure and function of the inner ear, ultimately resulting in hearing loss.

Prevalence and Symptoms

The prevalence of ARNSD28 is not well-documented, but it is estimated to be relatively rare compared to other forms of nonsyndromic hearing loss. The symptoms of this condition typically manifest as a partial or total loss of hearing that is not associated with any other signs or symptoms.

Genetic Testing and Diagnosis

Diagnosing ARNSD28 involves genetic testing, which can identify the presence of mutations in the TRIOBP gene. This test can be performed on blood samples or other tissues and can provide a definitive diagnosis for individuals suspected to have this condition.

References:

• [5] Deafness, autosomal recessive 28 is a form of non-syndromic sensorineural hearing loss caused by mutations in the TRIOBP gene on chromosome 22q13. It is ...
• [4] Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.
• [8] Mutations in human and/or mouse homologs are associated with this disease. Synonyms: autosomal recessive deafness 28; DFNB28.
• [9] ... hearing loss with no obvious associated signs or symptoms. ... deafness was not linked to genetic markers at known nonsyndromic recessive deafness loci.

Autosomal recessive nonsyndromic deafness, also known as DFNB28, is a genetic disorder that affects hearing. The signs and symptoms of this condition are typically related to hearing loss.

• Hearing Loss: The most common symptom of autosomal recessive nonsyndromic deafness 28 is severe to profound hearing loss, which can be present at birth or develop later in life [8].
• Prelingual Onset: In most cases, the onset of hearing loss occurs before language development, meaning that individuals with this condition may not have developed speech or language skills due to their hearing impairment [10].

It's worth noting that autosomal recessive nonsyndromic deafness 28 is a genetic disorder that affects hearing only, and there are no other associated signs or symptoms. The condition is characterized by severe to profound hearing loss with no obvious additional signs or symptoms [4].

Autosomal recessive nonsyndromic deafness 28, also known as DFNB1, 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 result [3], clinical resources are available with information about Autosomal dominant nonsyndromic hearing loss 28 and its clinical features, GRHL2, including available genetic tests from the US. However, it's essential to note that autosomal recessive nonsyndromic deafness 28 is a distinct condition from autosomal dominant nonsyndromic hearing loss.

Genetic Testing for TRIOBP Gene

Search result [5] mentions an autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. This suggests that genetic testing for the TRIOBP gene may be relevant for diagnosing autosomal recessive nonsyndromic deafness 28.

Diagnostic Testing Guidelines

Search result [6] refers to EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. This guideline provides a framework for healthcare professionals to follow when conducting diagnostic tests for this condition.

Other Diagnostic Tests

While not specifically mentioned in the search results, other diagnostic tests such as audiometry and genetic counseling may also be relevant for diagnosing autosomal recessive nonsyndromic deafness 28.

In conclusion, available genetic tests include those for the GRHL2 gene, and genetic testing for the TRIOBP gene may be relevant. Diagnostic testing guidelines are provided by EMQN Best Practice guidelines. Other diagnostic tests such as audiometry and genetic counseling may also be necessary.

References: [3] Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 28 and its clinical features, GRHL2, available genetic tests from US. [5] An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. [6] EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Autosomal recessive nonsyndromic deafness, also known as non-syndromic hearing loss (NSHL), is a type of hearing impairment that is inherited in an autosomal recessive pattern. While there are no specific drug treatments for this condition, researchers have been exploring various therapeutic approaches to manage and potentially cure NSHL.

Current Treatment Options

According to the search results, current clinical treatments for NSHL include:

• Cochlear implants: These devices can bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing individuals with severe hearing loss to perceive sound [5].
• Hearing aids: These devices amplify sound to help individuals with mild to moderate hearing loss better hear speech and other sounds [6].

Emerging Therapies

Gene therapy is a promising approach for treating hereditary deafness, including autosomal recessive nonsyndromic deafness. Researchers have shown that gene therapy can restore hearing in animal models of NSHL [2]. Additionally, gene therapy based on adeno-associated viruses (AAVs) is being explored as a potential treatment for NSHL [7].

Future Directions

While there are no specific drug treatments available for autosomal recessive nonsyndromic deafness, researchers continue to explore new therapeutic approaches. These include:

• Gene editing technologies: Techniques like CRISPR/Cas9 may be used to edit genes responsible for NSHL and restore hearing [5].
• Stem cell therapies: Researchers are investigating the use of stem cells to regenerate or repair damaged auditory tissues [7].

It's essential to note that these emerging therapies are still in the early stages of development, and more research is needed to determine their safety and efficacy.

References:

[2] Wang et al. (2024) - Gene therapy for hereditary deafness. [5] Jiang et al. (2023) - Current clinical treatments for hearing loss. [6] Search result 6 - Treatment options for NSHL. [7] Brotto et al. (2024) - Gene therapy based on AAVs for NSHL.

Autosomal Recessive Nonsyndromic Deafness (ARNSHL) is a type of hearing loss that is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations, and each parent typically carries one copy of the mutated gene without having hearing loss themselves.

Causes of ARNSHL:

• Mutations in the TRIOBP gene (encoding TRIO and F-actin-binding protein) [3]
• Mutations