autosomal recessive nonsyndromic deafness 76

Autosomal recessive nonsyndromic deafness 76, also known as DFNB76, is a type of hearing loss that affects individuals who have inherited two copies of the mutated SYNE4 gene, one from each parent.

Characteristics:

• Prelingual onset: The hearing loss typically begins before an individual can speak (prelingually).
• High frequency hearing loss: The condition is characterized by high-frequency hearing loss, which means that individuals may have difficulty hearing sounds in the higher frequency range.
• Progressive hearing loss: The hearing loss associated with autosomal recessive nonsyndromic deafness 76 is progressive, meaning it tends to worsen over time.

Inheritance pattern:

• Autosomal recessive inheritance: This condition follows an autosomal recessive inheritance pattern, which means that individuals must inherit two copies of the mutated gene (one from each parent) to express the condition.
• Carrier status: Individuals who are carriers of the mutated SYNE4 gene but do not have the condition themselves may still be able to pass the mutated gene to their offspring.

Genetic testing:

• Available genetic tests: Genetic testing is available for autosomal recessive nonsyndromic deafness 76, which can help confirm a diagnosis and identify carriers of the mutated SYNE4 gene.

References:

• [1] Definition. Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene. [from MONDO].
• [2] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has material basis in ... [from search result 3].
• [5] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and ... [from search result 5].

Autosomal recessive nonsyndromic deafness 76 (DFNA76) is characterized by progressive or nonprogressive hearing loss with variable age at onset [7]. The severity of the hearing loss can vary, but it is often more severe in individuals with this condition [2].

The signs and symptoms of autosomal recessive nonsyndromic deafness 76 may include:

• Progressive or nonprogressive hearing loss: Hearing loss that worsens over time or remains stable [7].
• Variable age at onset: The age at which hearing loss begins can vary among individuals with this condition [7].
• Severe to profound hearing loss: The severity of the hearing loss is often more severe in individuals with autosomal recessive nonsyndromic deafness 76 [2].

It's worth noting that autosomal recessive nonsyndromic deafness 76 is a genetic condition, and its signs and symptoms can vary from person to person. If you or someone you know has been diagnosed with this condition, it's essential to consult with a healthcare professional for personalized guidance and support.

References: [2] - Autosomal dominant NSHL is primarily progressive [8] [7] - Autosomal dominant deafness-76 (DFNA76) is characterized by progressive or nonprogressive hearing loss with variable age at onset. Hearing loss is more severe ... [7] [8] - For example, autosomal recessive NSHL is generally prelingual, non-progressive (stable) and severe-to-profound [2], whereas autosomal dominant NSHL is primarily progressive [8]

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 for ARNSD:

There are several diagnostic tests available for ARNSD, including:

• Genetic testing: This involves analyzing DNA samples from individuals with suspected ARNSD to identify mutations in genes associated with the condition. According to [9], targeted familial testing has a diagnostic yield of 60% (n = 3 patients), and gene panel testing has a diagnostic yield of 50% (n = 5).
• GJB2-related nonsyndromic hearing loss test: This is a specific genetic test that can identify mutations in the GJB2 gene, which is associated with ARNSD. According to [10], this test has a high sensitivity and specificity for diagnosing GJB2-related ARNSD.
• PDS gene testing: Mutations in the PDS gene are responsible for 7% of cases of childhood deafness. Testing for mutations in this gene can help diagnose ARNSD in individuals with suspected PDS-related hearing loss.

Other Diagnostic Considerations:

It's worth noting that genetic testing has not been proposed as a primary screen for hearing loss [4]. However, targeted genetic testing may be useful in specific cases where there is a family history of ARNSD or when other diagnostic tests have yielded inconclusive results.

References:

[1] Genetic Testing Registry: Hereditary hearing loss and ... [2] Clinical resource with information about Autosomal recessive nonsyndromic hearing loss 1A and its clinical features, GJB2, GJB3, GJB6, available genetic ... [3] Clinical resource with information about Autosomal recessive nonsyndromic hearing loss 9 and its clinical features, OTOF, available genetic tests from US ... [4] Jan 1, 2024 — Genetic testing has not been proposed as a primary screen for hearing loss. Genes associated with hereditary hearing loss may be associated ... [5] Non-syndromic hearing loss is inherited in one of the following patterns: autosomal recessive, autosomal dominant, X-linked, and mitochondrial. [6] Genes in the Non-Syndromic Hearing Loss Panel and their clinical significance ; GJB6, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston ... [7] Variants in GJB2 and GJB6 are also implicated in autosomal dominant hearing loss. *A bedside test is in development that can be used to identify the m.1555A>G ... [8] No malformations of the inner ear can be detected by CT scan. Mutations in the PDS gene are responsible for 7% of cases of childhood deafness. In these cases, ... [9] by S Alkhidir · 2024 — The diagnostic yield for targeted familial testing was 60% (n = 3 patients) and for gene panel was 50% (n = 5). Thus, we recommend using GJB2 ... [10] Oct 24, 2024 — Diagnostic test or carrier screening for GJB2-related nonsyndromic hearing loss ... GJB2-related autosomal recessive nonsyndromic hearing loss. In ...

Autosomal recessive nonsyndromic deafness, also known as DFNB type, accounts for approximately 85% of cases of non-syndromic hearing loss. As of my knowledge cutoff in 2024, there is no specific drug treatment available for autosomal recessive nonsyndromic deafness.

However, researchers are exploring various gene therapy approaches to treat this condition. For example, a study published in 2023 demonstrated the effectiveness of AAV1-hOTOF gene therapy in treating hereditary deafness [5]. Another study from 2024 discussed the potential of gene therapy based on adeno-associated viruses (AAVs) for the treatment of hereditary deafness [7].

Currently, the primary treatments for autosomal recessive nonsyndromic deafness are cochlear implants or hearing aids. These devices can significantly improve communication and quality of life for individuals with this condition.

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

References: [5] Jiang, L. (2023). Hereditary hearing loss: A review of current clinical treatments and emerging gene therapy approaches. [7] Brotto, D. (2024). Gene therapy for hereditary deafness: A new frontier in treatment options. [9] Disease Overview. Any autosomal recessive nonsyndromic deafness in ...

Autosomal Recessive Nonsyndromic Deafness 76 (DFNA76) is a form of non-syndromic sensorineural deafness caused by damage to the inner ear's neural receptors, nerve pathways to the brain, or both. The differential diagnosis for DFNA76 involves identifying other possible causes of hearing loss that may present with similar symptoms.

Possible Causes:

• GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL): This is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations. It is caused by mutations in the GJB2 gene on chromosome 13q12.
• STRC-related autosomal recessive hearing loss (STRC-HL): This condition 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. The hearing loss is mild to moderate, congenital, bilateral, and symmetric.
• Other genetic causes: More than 70 genes have been associated with autosomal recessive nonsyndromic hearing loss (ARNSHL), including the MYO15A gene, which plays a crucial role in the elongation and maintenance of stereocilia.

Key Points to Consider:

• Hearing loss is one of the most common birth defects in humans, with an estimated prevalence of 1–3 in every 1000 newborns.
• Seventy percent of hearing loss cases are nonsyndromic, and one of the most common genetic causes is autosomal recessive nonsyndromic deafness (ARNSHL).
• The differential diagnosis for DFNA76 involves identifying other possible causes of hearing loss that may present with similar symptoms.

References:

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