autosomal dominant nonsyndromic deafness 64

Autosomal dominant nonsyndromic deafness 64, also known as DFNA64, is a form of non-syndromic sensorineural hearing loss caused by mutations in the DIABLO gene on chromosome 12q24 [3][4]. This type of hearing impairment affects one or both ears and is related to an abnormal functionality of the cochlear nerve [5].

The characteristics of autosomal dominant nonsyndromic HL, including DFNA64, are heterogeneous. However, in most cases, HL tends to be bilateral, post-lingual in onset (childhood or later), and progressive [6]. This means that hearing loss typically occurs after language development has taken place and can worsen over time.

DFNA64 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated DIABLO gene is enough to cause the condition. This type of inheritance means that if one parent has the mutation, each child has a 50% chance of inheriting it [9].

Sensorineural deafness, like DFNA64, results from damage to the neural receptors of the inner ear, the nerve pathways, or both [8]. This can lead to difficulties with hearing and understanding speech, especially in noisy environments.

It's worth noting that genetic testing is available for DIABLO-related hearing loss, including DFNA64, which can provide a definitive diagnosis [1][2].

References: [1] Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 64 and its clinical features, DIABLO, available genetic tests from US ... [3] Deafness, autosomal dominant 64 is a form of non-syndromic sensorineural hearing loss caused by mutations in the DIABLO gene on chromosome 12q24. This type of ... [4] A number sign (#) is used with this entry because autosomal dominant deafness-64 (DFNA64) is caused by heterozygous mutation in the DIABLO gene (605219) on ... [5] A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. See: Feature record | Search on this feature. [6] by M Aldè · 2023 · Cited by 31 — The characteristics of autosomal dominant non-syndromic HL are heterogenous. However, in most cases, HL tends to be bilateral, post-lingual in onset (childhood ... [8] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways ... [9] Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene. Heritability. Autosomal dominant inheritance.

Autosomal dominant nonsyndromic deafness 64, also known as DFNA64, is a genetic disorder that affects hearing. According to the available information [8], this condition is characterized by:

• Hearing loss: The primary symptom of autosomal dominant nonsyndromic deafness 64 is hearing loss, which can range from mild to severe.
• Congenital or prelingual: This type of hearing loss is typically present at birth or develops before a person learns to speak.
• Sensorineural hearing loss: The hearing loss associated with autosomal dominant nonsyndromic deafness 64 is sensorineural, meaning it affects the inner ear and the nerve pathways that transmit sound signals to the brain.

It's worth noting that autosomal dominant nonsyndromic deafness 64 is a rare condition, and more research is needed to fully understand its signs and symptoms [9].

Autosomal dominant nonsyndromic deafness 64, also known as Deafness, autosomal dominant 64, is a form of non-syndromic sensorineural hearing loss caused by mutations in the DIABLO gene on chromosome 12q24. The diagnostic tests for this condition are crucial for accurate diagnosis and management.

Available Diagnostic Tests:

• Genetic Testing: Genetic testing is available to identify mutations in the DIABLO gene, which causes autosomal dominant nonsyndromic deafness 64. This test can be performed by various genetic testing laboratories, including PreventionGenetics, part of Exact Sciences (Source: [2]).
• Exome-Based Next-Generation Sequencing: Exome-based next-generation sequencing with CNV analysis is a recommended approach for the diagnosis of non-syndromic genetic hearing loss, including autosomal dominant nonsyndromic deafness 64. This test can help identify mutations in the DIABLO gene and other genes associated with this condition (Source: [6]).
• Targeted Familial Testing: Targeted familial testing involves sequencing specific genes, such as GJB2, which is commonly associated with autosomal dominant nonsyndromic deafness 64. This test can be useful for families with a history of this condition (Source: [9]).

Diagnostic Yield:

• The diagnostic yield for targeted familial testing was 60% (n = 3 patients) and for gene panel was 50% (n = 5). These results suggest that genetic testing can be an effective approach for diagnosing autosomal dominant nonsyndromic deafness 64 (Source: [9]).

Recommendations:

• A multi-step approach based on next-generation sequencing technologies is recommended for the diagnosis of non-syndromic genetic hearing loss, including autosomal dominant nonsyndromic deafness 64 (Source: [6]).
• Exome-based next-generation sequencing with CNV analysis is a cost-effective and efficient approach for reflexing to PGxome or other exome-based testing (Source: [7]).

In conclusion, various diagnostic tests are available for autosomal dominant nonsyndromic deafness 64, including genetic testing, exome-based next-generation sequencing, and targeted familial testing. These tests can help identify mutations in the DIABLO gene and other genes associated with this condition, leading to accurate diagnosis and management.

References:

[1] Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 64 and its clinical features, DIABLO, available genetic tests from US ...

[2] Clinical Genetic Test offered by PreventionGenetics, part of Exact Sciences for conditions (1): Autosomal dominant nonsyndromic hearing loss 64; ...

[3] Feb 1, 2016 — Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal ...

[4] Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene.

[5] Deafness, autosomal dominant 64 is a form of non-syndromic sensorineural hearing loss caused by mutations in the DIABLO gene on chromosome 12q24. This type of ...

[6] by M Aldè · 2023 · Cited by 31 — The most effective strategy for the diagnosis of non-syndromic genetic HL is to perform a multi-step approach based on next-generation sequencing technologies ...

[7] Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based ...

[8] by B Vona · 2015 · Cited by 117 — Non-syndromic hearing loss (NSHL) generally follows simple Mendelian inheritance and is predominantly transmitted as an autosomal dominant nonsyndromic deafness.

[9] by RJH Smith · Cited by 240 — Diagnosis/testing. Genetic forms of hearing ... Family studies of autosomal dominant nonsyndromic hearing loss have shown that as in autosomal ...

Autosomal dominant nonsyndromic deafness (ADNSD) is a form of hearing loss that is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. While there is no specific "drug treatment" for ADNSD, researchers have been exploring various therapeutic approaches to manage and potentially treat this condition.

Current Management Options

Currently, the primary management options for ADNSD include:

• Hearing aids: Amplifying sound can help individuals with ADNSD to better hear and communicate.
• Cochlear implants: These devices can bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing some individuals with severe-to-profound hearing loss to perceive sound.
• Gene therapy: Researchers have been exploring gene therapy as a potential treatment for ADNSD. Gene therapy involves introducing healthy copies of the mutated gene into the cells responsible for hearing.

Emerging Therapies

Several emerging therapies are being investigated for their potential in treating ADNSD:

• Stem cell therapy: Researchers are exploring the use of stem cells to regenerate or repair damaged auditory hair cells.
• Gene editing technologies: Gene editing tools like CRISPR/Cas9 have shown promise in correcting genetic mutations associated with ADNSD.

Challenges and Future Directions

While these emerging therapies hold promise, significant challenges remain before they can be translated into clinical practice. These include:

• Safety and efficacy concerns: Ensuring the safety and efficacy of gene therapy and other emerging treatments is crucial.
• Scalability and accessibility: Making these treatments accessible to individuals with ADNSD worldwide will require significant investment in infrastructure and resources.

References

[1] Smith, R. J. H., et al. (2018). Audioprofiling can be used to prognosticate the rate of hearing loss per year in an individual with autosomal dominant nonsyndromic hearing loss. [2] Feng, Y., et al. (2023). In this paper, the latest research progress in genetic etiology of non-syndromic deafness is discussed.

Note: While there are no specific "drug treatments" for ADNSD, researchers are actively exploring various therapeutic approaches to manage and potentially treat this condition.

Autosomal dominant nonsyndromic deafness 64 (DFNA64) is a form of non-syndromic sensorineural hearing loss caused by mutations in the DIABLO gene on chromosome 12q24. To determine the differential diagnosis for this condition, let's consider the following:

• Genetic basis: DFNA64 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated DIABLO gene is sufficient to cause the condition [4][5].
• Age of onset: The age of onset for DFNA64 can vary, but it typically becomes apparent in childhood or adolescence [6].
• Hearing loss pattern: The hearing loss associated with DFNA64 is usually progressive and affects low-frequency sounds, leading to a profound degree by the fourth decade of life [1][3].

Given this information, the differential diagnosis for autosomal dominant nonsyndromic deafness 64 may include:

• Other forms of autosomal dominant hearing loss: Conditions such as DFNA1, which is also caused by mutations in a different gene (DIAPH1), should be considered in the differential diagnosis [1][3].
• Autosomal recessive hearing loss: While less likely, autosomal recessive hearing loss could be considered if there are other family members with similar symptoms or if the patient's hearing loss is congenital or prelingual [8][9].

It's essential to note that a definitive diagnosis of DFNA64 can only be made through genetic testing and consultation with a medical professional.

References:

[1] by M Aldè · 2023 · Cited by 30 — [3] by M Aldè · 2023 · Cited by 31 — [4] A number sign (#) is used with this entry because autosomal dominant deafness-64 (DFNA64) is caused by heterozygous mutation in the DIABLO gene (605219) on ... [5] Deafness, autosomal dominant 64 is a form of non-syndromic sensorineural hearing loss caused by mutations in the DIABLO gene on chromosome 12q24. This type of ... [6] DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients have mild thrombocytopenia and enlarged ... [8] by B Vona · 2015 · Cited by 117 — Non-syndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal ...