autosomal recessive nonsyndromic deafness 100

Autosomal Recessive Nonsyndromic Deafness 100, also known as DFNB100, is a form of non-syndromic sensorineural deafness characterized by prelingual onset of profound hearing impairment. This condition is caused by mutations in the gene responsible for this disorder.

Key Features:

• Prelingual onset of profound sensorineural deafness without vestibular involvement [4]
• Profound hearing loss present at birth or early childhood
• No associated syndromic features, making it a nonsyndromic form of deafness

Inheritance Pattern: DFNB100 follows an autosomal recessive inheritance pattern, meaning that the mutated gene is located on one of the non-sex chromosomes (22 out of 46 total chromosomes) and two copies of the mutated gene (one from each parent) are necessary for the condition to manifest.

Prevalence: The prevalence of DFNB100 is not well-documented, but it is considered a rare form of nonsyndromic deafness.

Genetic Cause: Mutations in the gene responsible for DFNB100 lead to the development of this condition. The exact genetic cause is not specified in the provided context, but it is mentioned that mutations in human and/or mouse homologs are associated with this disease [9].

It's worth noting that autosomal recessive nonsyndromic deafness 100 is a specific form of non-syndromic sensorineural hearing loss, and more information on this condition may be available through further research or consultation with medical professionals.

Autosomal Recessive Nonsyndromic Deafness 100 (DFNB100) is a genetic condition that affects hearing. The signs and symptoms associated with this condition are as follows:

• Prelingual onset: DFNB100 typically begins before speech development, meaning that affected individuals may be born with or develop severe to profound hearing loss.
• Profound sensorineural deafness: This condition is characterized by a significant loss of hearing in both ears, specifically affecting the inner ear's ability to detect sound vibrations.
• No vestibular involvement: Unlike some other forms of hearing loss, DFNB100 does not affect balance or equilibrium.

It's essential to note that DFNB100 is a specific type of autosomal recessive nonsyndromic deafness, and its symptoms may vary in severity from person to person. The condition is caused by mutations in the gene responsible for this form of hearing loss.

References:

• [8] describes DFNB100 as characterized by prelingual onset of profound sensorineural deafness without vestibular involvement.
• [9] mentions that DFNB100 has a material basis in mutation in the gene, which causes prelingual onset of profound sensorineural deafness without vestibular involvement.

Based on the provided context, here are some diagnostic tests for autosomal recessive nonsyndromic deafness:

• Genetic testing: Molecular genetic testing is available in clinical laboratories for many types of syndromic and nonsyndromic deafness. This test can identify mutations in the GJB2 gene, which accounts for about half of all severe-to-profound autosomal recessive nonsyndromic hearing loss cases [1].
• Newborn hearing screening (NBHS): In countries where available, NBHS typically identifies severe-to-profound hearing loss. This test can also be used to identify GJB2-AR NSHL [2].
• Parental carrier testing: Parental carrier testing should be offered, where relevant, to confirm that parents are carriers and that the child is affected by autosomal recessive nonsyndromic deafness [7].

It's worth noting that genetic testing is not a substitute for medical evaluation and diagnosis. A comprehensive diagnostic workup, including clinical evaluation and imaging studies (such as CT scans), may be necessary to confirm the diagnosis of autosomal recessive nonsyndromic deafness.

References: [1] Context 1: Feb 1, 2016 [2] Context 2: Jul 20, 2023 [7] Context 7: Autosomal recessive non-syndromic hearing loss​​

Based on the provided context, it appears that there are no specific drug treatments mentioned for autosomal recessive nonsyndromic deafness.

However, I can provide some general information about the treatment options for this condition. According to search result [7], current therapies for hearing loss include hearing aids or cochlear implants. There is no mention of biological therapies or drug treatments specifically for autosomal recessive nonsyndromic deafness.

It's worth noting that gene therapy has been explored as a potential treatment option for certain forms of genetic hearing loss, including autosomal recessive deafness (see search result [12]). However, this is still an emerging area of research and not yet widely available as a treatment option.

In terms of specific drug treatments, I couldn't find any relevant information in the provided context. If you're looking for more general information about hearing loss or treatment options, I'd be happy to try and help.

Here are some key points to consider:

• Hearing aids or cochlear implants may be used to assist with sound amplification.
• Gene therapy is being researched as a potential treatment option for certain forms of genetic hearing loss.
• There is no specific mention of drug treatments for autosomal recessive nonsyndromic deafness.

I hope this information is helpful. Let me know if you have any further questions!

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, as it often presents with severe-to-profound hearing loss without any other apparent symptoms. However, there are several key factors that can help in making a differential diagnosis.

Key Diagnostic Features:

• Severe-to-profound congenital or prelingual hearing loss: This is the most common presentation of ARNSHL, and it often affects both ears equally [2].
• Normal inner-ear anatomy on imaging studies: Unlike other forms of hearing loss, ARNSHL typically does not involve any visible abnormalities in the inner ear on MRI or CT scans [3].
• Family history of similar hearing loss: A significant proportion of cases are inherited in an autosomal recessive pattern, meaning that both parents may be carriers of a mutated gene [1].

Differential Diagnosis:

• GJB2-related ARNSHL: This is the most common genetic cause of congenital severe-to-profound bilateral deafness, accounting for approximately 50% of cases [2].
• OTOF-related ANSD: This condition also presents with congenital or prelingual severe-to-profound bilateral deafness without inner-ear anomalies on imaging studies [3].
• Other genetic causes: Mutations in other genes, such as those involved in stereocilia morphogenesis, can also contribute to ARNSHL [4].

Clinical Considerations:

• Early diagnosis and intervention: Prompt identification of ARNSHL is essential for providing appropriate support and management strategies, particularly in cases where hearing loss is severe or profound.
• Genetic counseling: Family members may benefit from genetic counseling to understand the risk of passing on a mutated gene.

In summary, autosomal recessive nonsyndromic deafness can be diagnosed based on key diagnostic features, including severe-to-profound congenital or prelingual hearing loss and normal inner-ear anatomy. A thorough understanding of the differential diagnosis is essential for providing accurate diagnoses and management strategies.

References:

[1] Feb 1, 2016 — Nonsyndromic hearing loss can also be inherited in an autosomal dominant pattern. Mutations in at least 30 genes have been identified in people ...

[2] GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital (present at birth) severe-to-profound ...

[3] OTOF-related ANSD is characterized by congenital or prelingual, typically severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT ...

[4] by Y Feng · 2023 · Cited by 2 — These findings suggest that defects in stereocilia morphogenesis contribute to both vestibular dysfunction and deafness. Autosomal recessive hearing impairment ...