autosomal recessive nonsyndromic deafness 103

Autosomal Recessive Nonsyndromic Deafness 103, also known as DFNB103, is a type of hearing impairment that affects one or both ears.

• It is caused by a mutation in the CLIC5 gene on chromosome 6p21 [4][8].
• 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 develop the condition [3][9].
• Symptoms typically begin in early childhood and progress from mild to severe or even profound hearing loss before the second decade [7].
• The hearing impairment is stable and does not worsen over time [10].

It's worth noting that this condition is a form of sensorineural deafness, which affects the inner ear and the nerve pathways that transmit sound signals to the brain.

Autosomal recessive nonsyndromic deafness 103 (DFNB103) is a genetic disorder that affects hearing. According to the available information, this condition is characterized by severe to profound, stable hearing loss affecting all frequencies, typically presenting as congenital or prelingual.

The clinical manifestations of DFNB103 are not explicitly stated in the provided context. However, it can be inferred from related conditions that autosomal recessive nonsyndromic deafnesses often present with hearing loss without other associated symptoms.

It's worth noting that the information available does not provide a comprehensive list of signs and symptoms for this specific condition. However, based on general knowledge about autosomal recessive nonsyndromic deafness, it can be said that:

• Hearing loss is the primary symptom.
• The hearing loss is typically severe to profound and stable.
• It often presents as congenital or prelingual.

Please note that these are general statements and may not specifically apply to DFNB103. More information would be needed to provide a detailed description of signs and symptoms for this condition.

References: 1. [8] - This condition is characterized by severe to profound, stable hearing loss affecting all frequencies. 2. [6] - An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has material ...

Autosomal Recessive Nonsyndromic Deafness (ARNSD) is a type of hearing loss that 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.

Diagnostic Tests:

• Whole-Exome Sequencing (WES): This test is ideal for patients with a clinical suspicion of unilateral or bilateral non-syndromic hearing loss. WES seeks to evaluate all exons in the genome for variations, which can identify variants in known hearing loss-related genes [6].
• Genetic Counseling: Genetic counseling is strongly recommended for individuals pursuing genetic testing for nonsyndromic hereditary hearing loss. This involves discussing the risks and benefits of genetic testing with a qualified healthcare professional.
• Whole-Genome Sequencing (WGS): WGS can also be used to diagnose ARNSD, as it can identify variations in all genes, including those not previously associated with hearing loss [8].
• Core Medical Evaluation: A diagnosis of NSHL requires an evaluation by appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, and other relevant areas [5].

Key Points:

• ARNSD is inherited in an autosomal recessive pattern.
• WES and WGS can be used to diagnose ARNSD.
• Genetic counseling is recommended for individuals pursuing genetic testing for nonsyndromic hereditary hearing loss.
• A core medical evaluation is necessary for a diagnosis of NSHL.

References:

[5] - Core Medical Evaluation for NSHL [6] - WES for Identifying Variants in Hearing Loss-Related Genes [8] - WGS for Diagnosing ARNSD

Current Drug Treatments for Autosomal Recessive Nonsyndromic Deafness

Unfortunately, there are no specific drug treatments available for autosomal recessive nonsyndromic deafness. However, researchers are exploring various gene therapies and other biological approaches to treat this condition.

• Gene therapy is being investigated as a potential treatment for hereditary deafness, including autosomal recessive nonsyndromic deafness [2].
• AAV1-hOTOF gene therapy has been shown to be effective in treating unilateral hearing loss, but its efficacy in bilateral cases is still unknown [2].
• Researchers are also exploring the use of other gene therapies and biological approaches to treat genetic hearing loss, including autosomal recessive nonsyndromic deafness [10].

Current Treatment Options

While there are no specific drug treatments available for autosomal recessive nonsyndromic deafness, current treatment options include:

• Hearing aids: These can be used to amplify sound and improve communication in individuals with mild to moderate hearing loss.
• Cochlear implants: These can be used to restore some sense of hearing in individuals with severe to profound hearing loss.

Future Directions

Researchers are actively exploring new approaches to treating genetic hearing loss, including autosomal recessive nonsyndromic deafness. Gene therapy and other biological approaches hold promise for the development of effective treatments for this condition.

References:

[2] Wang H, et al. (2024). Gene therapy for hereditary deafness: A promising approach. [Context result 2]

[10] Feng Y, et al. (2023). Approaches to reversing or preventing genetic hearing loss. [Context result 10]

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 conditions that should be considered in the differential diagnosis of ARNSHL.

Common causes:

• Mutations in the GJB2 gene: This is the most common cause of ARNSHL, accounting for up to 50% of cases [11][1]. The GJB2 gene encodes connexin 26, a gap junction protein that allows passage of potassium ions.
• Other genes implicated in ARNSHL: In addition to GJB2, mutations in other genes such as SLC26A4, MYO7A, and OTOF have been associated with ARNSHL [12][13].

Less common causes:

• STRC-related autosomal recessive hearing loss (STRC-HL): This condition is characterized by mild to moderate congenital bilateral sensorineural hearing loss, often accompanied by decreased fertility in males [13].
• Deafness, autosomal recessive 1a (DFNA1A): This is a form of non-syndromic sensorineural hearing loss caused by mutations in the GJB2 gene on chromosome 13q12 [4].

Genetic testing:

• A hearing loss multigene panel that includes all genes implicated in nonsyndromic hearing loss and disorders that mimic nonsyndromic hearing loss, including GJB2 and other genes of interest, is most likely to identify the genetic cause of ARNSHL while limiting identification of non-hearing-related conditions [10].

References:

[1] 11. In cases of non syndromic hearing loss, the most common mutation occurs in the Gap Junction Beta 2 gene (GJB2) which can account for up to 50% of autosomal recessive hearing loss and thus 20% of all congenital hearing loss.

[4] Deafness, autosomal recessive 1a is a form of non-syndromic sensorineural hearing loss caused by mutations in the GJB2 gene on chromosome 13q12.

[10] A hearing loss multigene panel that includes all genes implicated in nonsyndromic hearing loss and disorders that mimic nonsyndromic hearing loss, including GJB2 and other genes of interest, is most likely to identify the genetic cause of ARNSHL while limiting identification of non-hearing-related conditions.

[11] In cases of non syndromic hearing loss, the most common mutation occurs in the Gap Junction Beta 2 gene (GJB2) which can account for up to 50% of autosomal recessive hearing loss and thus 20% of all congenital hearing loss.