autosomal recessive nonsyndromic deafness 8

Autosomal Recessive Nonsyndromic Deafness 8 (DFNB8) is a form of non-syndromic sensorineural hearing loss caused by mutations in the TMPRSS3 gene on chromosome 21q22. This type of deafness is characterized by early-onset, usually bilateral (but sometimes asymmetric) hearing loss.

Key Features:

• Early-onset hearing loss
• Bilateral or asymmetric hearing loss
• Sensorineural hearing loss
• Caused by mutations in the TMPRSS3 gene on chromosome 21q22

According to [6], DFNB8 is a form of non-syndromic sensorineural hearing loss caused by mutations in the TMPRSS3 gene. This type of deafness is characterized by early-onset, usually bilateral (but sometimes asymmetric) hearing loss.

Note: The information provided above is based on search result [6] and citation [6].

Autosomal recessive nonsyndromic deafness, also known as DFNB, typically presents with severe, prelingual deafness involving all frequencies. This means that individuals affected by this condition are usually born with significant hearing loss or develop it at a very young age.

Characteristics of Autosomal Recessive Nonsyndromic Deafness:

• Severe, prelingual deafness (hearing loss present at birth or early childhood)
• Bilateral hearing loss (affecting both ears), but sometimes asymmetric
• Involvement of all frequencies

It's essential to note that autosomal recessive

Autosomal Recessive Nonsyndromic Deafness 8 (ARNSD8) is a form of non-syndromic sensorineural hearing loss caused by mutations in the TMPRSS3 gene on chromosome 21q22. Diagnostic tests for ARNSD8 typically involve genetic analysis to identify mutations in the TMPRSS3 gene.

• Genetic testing: This involves analyzing DNA samples from affected individuals and their family members to identify mutations in the TMPRSS3 gene [5]. Genetic testing can be performed using various techniques, including sequencing of the entire gene or specific exons within it.
• Exome-based NextGen sequencing with CNV analysis: This is a comprehensive genetic testing approach that involves sequencing all protein-coding genes (exome) and analyzing copy number variations (CNVs) [6]. This test can identify mutations in the TMPRSS3 gene, as well as other potential causes of hearing loss.
• CT scan: In some cases, ARNSD8 may be associated with malformations of the inner ear that can be detected by CT scans [7].

It's worth noting that genetic testing for ARNSD8 is typically recommended for individuals with a clinical suspicion of this condition, particularly those with a family history of hearing loss or other related conditions.

References:

[5] - This form of deafness is always associated with malformations of the inner ear that can be detected by CT scan. In rare cases, thyroid gland disease may also be present [7]. [6] - Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests [6]. [7] - This form of deafness is always associated with malformations of the inner ear that can be detected by CT scan. In rare cases, thyroid gland disease may also be present [7].

Current Status of Drug Treatment for Autosomal Recessive Nonsyndromic Deafness 8

There is currently no pharmacological treatment available for congenital deafness, including autosomal recessive nonsyndromic deafness 8 (DFNB8) [7]. However, researchers are exploring gene therapy as a promising approach for treating hereditary deafness.

Gene Therapy: A Potential Solution

Recent studies have shown that gene therapy using adeno-associated viruses (AAVs) can be effective in treating autosomal recessive nonsyndromic deafness 8. For example, a study published in [4] demonstrated the safety and efficacy of AAV1-hOTOF gene therapy with dual promoters for unilateral hearing loss caused by DFNB8.

Other Treatment Options

While there is no specific drug treatment available for autosomal recessive nonsyndromic deafness 8, patients may benefit from other forms of treatment. For example, some cases of conductive hearing loss may be treated with surgery or other interventions [6].

Future Directions

Researchers are actively exploring new approaches to treating genetic hearing loss, including gene therapy and other innovative treatments. As our understanding of the underlying genetics of DFNB8 continues to evolve, it is likely that new treatment options will become available.

References:

[4] Gene therapy is a promising approach for hereditary deafness. We recently showed that unilateral AAV1-hOTOF gene therapy with dual promoters for hearing loss caused by DFNB8 was safe and effective [4]. [6] In 85% of cases, the deafness is transmitted as an autosomal recessive trait (DFNB type). Treatment may sometimes be proposed for some forms of conductive hearing loss [6]. [7] However, no pharmacological treatment is currently available for congenital deafness. In this Article, we report the safety and efficacy of gene therapy using AAVs for treating hereditary deafness [7].

Autosomal recessive nonsyndromic deafness (ARNSHL) is a form of non-syndromic sensorineural hearing loss caused by mutations in the TMPRSS3 gene on chromosome 21q22. This type of hearing loss is characterized by early-onset, usually bilateral (but sometimes asymmetric) hearing loss with autosomal recessive transmission.

Causes and Characteristics:

• Genetic Cause: Mutations in the TMPRSS3 gene are responsible for ARNSHL.
• Transmission: Autosomal recessive inheritance pattern.
• Age of Onset: Early-onset, usually present at birth or early childhood.
• Hearing Loss: Bilateral (but sometimes asymmetric) hearing loss involving all frequencies.

Differential Diagnosis:

ARNSHL can be differentiated from other forms of hearing loss based on its genetic cause and characteristics. Some key points to consider:

• GJB2-related ARNSHL: This is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations.
• STRC-related autosomal recessive hearing loss: This form of hearing loss involves both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2.

References:

• [5] Deafness, autosomal recessive 8 is a form of non-syndromic sensorineural hearing loss caused by mutations in the TMPRSS3 gene on chromosome 21q22.
• [10] GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations.
• [11] STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2.