autosomal recessive nonsyndromic deafness 102

Autosomal Recessive Nonsyndromic Deafness 102 (DFNB102) is a form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. Vestibular function, which is the ability to balance and maintain posture, is unaffected.

This condition is caused by mutations in the EPS8 gene, which plays a crucial role in the development and maintenance of the inner ear. The EPS8 gene provides instructions for making a protein that helps regulate cell growth and division, particularly during embryonic development.

Mutations in this gene can lead to hearing loss due to the disruption of normal cellular processes in the inner ear. This condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition.

It's worth noting that more than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL), including DFNB102 [3]. This highlights the genetic complexity and diversity underlying this condition.

References: [1] - A form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. Vestibular function is unaffected. [2] - Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene. [4] - Deafness, autosomal recessive 102 is a form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. It is an autosomal ... [5] - Mutations in EPS8 have been identified as causes of deafness and autosomal recessive 102 (DFNB102) (MIM#615974)-related hearing impairment. [10] - An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12.

Autosomal recessive nonsyndromic deafness 102 (DFNB102) is a genetic disorder that affects hearing. The clinical signs and symptoms observed in this condition are as follows:

• Prelingual onset: Hearing loss typically begins before the age of 2-3 years [1].
• Severe to profound, stable hearing loss: Individuals with DFNB102 often experience severe to profound hearing loss across all frequencies, which remains stable over time [6][7].
• Bilateral involvement: Both ears are usually affected, although the degree of hearing loss may vary between the two ears [9].

It's worth noting that these symptoms can vary in severity and presentation among individuals with DFNB102.

Based on the provided context, it appears that you are looking for diagnostic tests related to autosomal recessive nonsyndromic deafness.

Diagnostic Tests

There are several diagnostic tests available for autosomal recessive nonsyndromic deafness. Some of these tests include:

• Genetic testing: This involves analyzing the genes associated with hearing loss, such as the EPS8 gene [11]. Genetic testing can help identify mutations in these genes that may be causing the hearing loss.
• Whole Exome Sequencing (WES): WES is a comprehensive genetic test that evaluates all exons in the genome for variations [5]. This approach can identify variants in known hearing loss-related genes, including those associated with autosomal recessive nonsyndromic deafness.

Clinical Genetic Tests

Athena Diagnostics offers a clinical genetic test for conditions related to autosomal recessive nonsyndromic deafness, including PHARC syndrome and ABCD syndrome [3]. This test can help identify the underlying cause of hearing loss in individuals with these conditions.

Other Diagnostic Approaches

In addition to genetic testing, other diagnostic approaches may be used to diagnose autosomal recessive nonsyndromic deafness. These include:

• Clinical evaluation: A thorough clinical evaluation by an audiologist or a geneticist can help identify the underlying cause of hearing loss [7].
• Imaging studies: Imaging studies such as MRI and CT scans may be used to rule out other conditions that may be causing the hearing loss.

References

[3] Athena Diagnostics. Clinical Genetic Test for PHARC syndrome, ABCD syndrome, Abortive cerebellar ataxia, and other related conditions. [5] WES seeks to evaluate all exons in the genome for variations, which can identify variants in known hearing loss-related genes. [7] Hereditary hearing loss is clinically and genetically heterogeneous, with over 120 genes associated with hearing loss [7]. [11] Pathogenic variants in the EPS8 gene result in nonsyndromic hearing loss.

Current Status of Drug Treatment for Autosomal Recessive Nonsyndromic Deafness

Unfortunately, there are no established drug treatments specifically designed to treat autosomal recessive nonsyndromic deafness. The current therapies for hearing loss in this condition are limited to hearing aids or cochlear implants [7].

However, researchers have been exploring gene therapy as a potential approach for treating hereditary deafness, including autosomal recessive nonsyndromic deafness [2]. Gene therapy involves using viruses (such as AAVs) to deliver healthy copies of the faulty gene to the inner ear, with the goal of restoring hearing function.

While promising, gene therapy is still in its early stages and has not yet been proven to be effective for treating autosomal recessive nonsyndromic deafness. Further research is needed to determine the safety and efficacy of this approach [6].

Current Treatment Options

The current treatment options for autosomal recessive nonsyndromic deafness are limited to:

• Hearing aids: These can help improve hearing in individuals with mild to moderate hearing loss.
• Cochlear implants: These can provide a sense of sound to individuals who are severely or profoundly deaf.

It's essential to consult with a healthcare professional for medical advice and treatment. They can help determine the best course of action based on individual circumstances [9].

References

[2] by H Wang · 2024 · Cited by 11 — Gene therapy is a promising approach for hereditary deafness. [6] by D Brotto · 2024 — Gene therapy based on AAVs is rapidly becoming a new method for the treatment of hereditary deafness, but the road to complete and effective clinical application is still long. [7] Aug 31, 2022 — Current therapies for hearing loss are hearing aids or cochlear implants. No biological therapies exist. [9] by Y Feng · 2023 · Cited by 1 — Approaches to reversing or preventing genetic hearing loss are limited.

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, and a differential diagnosis is often necessary to rule out other conditions that may present with similar symptoms. Here are some key points to consider:

• Genetic testing: Genetic testing for mutations in the GJB2 gene, which is responsible for most cases of ARNSHL, is a crucial step in diagnosing this condition [1]. However, it's essential to note that genetic testing alone may not be sufficient to confirm the diagnosis.
• Other autosomal recessive conditions: Other autosomal recessive conditions, such as OTOF-related ANSD (autosomal recessive nonsyndromic deafness), should also be considered in the differential diagnosis [3]. These conditions can present with similar symptoms and may require additional testing to confirm the diagnosis.
• Congenital or prelingual deafness: ARNSHL is often characterized by congenital or prelingual deafness, which means that hearing loss occurs before speech development [5]. This symptom should be considered in the differential diagnosis of other conditions that may present with similar symptoms.
• Sensorineural hearing loss: Most cases of ARNSHL are associated with sensorineural hearing loss, which can be divided into DFNA (autosomal dominant deafness) and DFNB (autosomal recessive nonsyndromic deafness) [10]. This information should be considered in the differential diagnosis.

In terms of specific conditions that may be part of the differential diagnosis for ARNSHL, consider the following:

• OTOF-related ANSD: As mentioned earlier, OTOF-related ANSD is a condition characterized by congenital or prelingual, typically severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT [3].
• GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL): This condition is the most common genetic cause of congenital severe-to-profound hearing loss and should be considered in the differential diagnosis [2].

It's essential to note that a comprehensive evaluation, including genetic testing, audiologic assessment, and imaging studies, may be necessary to confirm the diagnosis of ARNSHL and rule out other conditions.