autosomal dominant nonsyndromic deafness 67

Autosomal dominant nonsyndromic deafness 67 (DFNA67) is a form of hearing loss that affects the inner ear's ability to transmit sound signals to the brain.

• Age of onset: Hearing loss in DFNA67 typically begins between the first and fourth year of life [1][2][3].
• Type of hearing loss: This condition is characterized by sensorineural hearing loss, which means damage to the neural receptors of the inner ear or the nerve pathways to the brain [4].
• Inheritance pattern: DFNA67 is inherited in an autosomal dominant manner, meaning a single copy of the mutated gene (OSBPL2) is enough to cause the condition [5][6].
• Genetic basis: The condition is caused by mutations in the OSBPL2 gene on chromosome 20q13 [7][8].

It's worth noting that DFNA67 is a specific type of non-syndromic hearing loss, which means it does not occur as part of a broader syndrome or set of symptoms.

Autosomal dominant nonsyndromic deafness 67 (DFNA67) is a form of hearing loss that affects high frequencies, typically starting from the first to fourth year of life. The signs and symptoms associated with DFNA67 are not explicitly mentioned in the provided context.

However, based on the information available, it can be inferred that DFNA67 is characterized by:

• Bilateral hearing loss: Hearing loss initially affects both ears (bilateral) [8][9].
• High-frequency hearing loss: The onset of hearing loss typically starts from the first to fourth year of life and primarily affects high frequencies [5][8].
• Progressive hearing loss: Hearing loss may be progressive, meaning it can change over time [10].

It's essential to note that DFNA67 is a specific form of autosomal dominant nonsyndromic deafness, and the signs and symptoms might vary from person to person. However, based on the available information, these characteristics are commonly associated with this condition.

References: [5] - The onset ranges from the first to the fourth year of life. [8] - DFNA67 is a form of nonsyndromic sensorineural hearing loss. Onset ranges from the first to the fourth year of life. Hearing loss initially affects high frequencies. [9] - Individuals with nonsyndromic deafness have only symptoms of deafness. In most cases, the onset of non-syndromic deafness in patients with autosomal dominant ... (context not explicitly mentioning DFNA67 but related to nonsyndromic deafness). [10] - Hearing loss can affect one (unilateral) or both (bilateral) ears and can range from mild to profound degrees of hearing loss. The hearing loss may also be stable or progressive, meaning that it can change over time.

Autosomal dominant nonsyndromic deafness (ADNSHL) is a type 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. Diagnostic tests for ADNSHL are crucial for identifying the underlying genetic cause and providing accurate diagnosis.

Types of diagnostic tests:

• Genetic testing: This involves analyzing DNA samples from affected individuals or family members to identify mutations in specific genes associated with ADNSHL, such as GJB2, SLC26A4, or MYO7A [8].
• Gene panel testing: This is a type of genetic testing that analyzes multiple genes simultaneously, including those associated with ADNSHL. A study found that gene panel testing had a diagnostic yield of 50% for ADNSHL [8].
• Targeted familial testing: This involves analyzing DNA samples from family members to identify mutations in specific genes associated with ADNSHL. A study found that targeted familial testing had a diagnostic yield of 60% for ADNSHL [8].

Clinical features and diagnosis:

Diagnosis of ADNSHL requires an evaluation by appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, and other relevant specialties [6]. Clinical features of ADNSHL may include:

• Hearing loss: This is the primary symptom of ADNSHL, which can range from mild to profound.
• Family history: A family history of hearing loss or deafness may be present in individuals with ADNSHL.

References:

[6] Jan 1, 2024 — Diagnosis of NSHL requires an evaluation with appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, ...

[8] 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 ...

Autosomal dominant nonsyndromic deafness (ADND) is a genetic condition that affects hearing, and it can be challenging to find effective treatments for this condition.

Current treatment options:

• Cochlear implants or hearing aids may improve auditory function in some patients [3].
• However, these methods cannot restore normal hearing and are often insufficient for HL rehabilitation, especially in children with severe-to-profound HL [6].

Emerging treatment options:

• Gene therapy is being explored as a potential treatment for ADND. This approach aims to directly address the primary cause of hearing loss (DNA mutations) by introducing healthy copies of the gene into the affected cells [7].
• However, it's essential to note that gene therapy is still in its early stages, and more research is needed to determine its efficacy and safety.

Important considerations:

• Treatment for ADND may sometimes be proposed for some forms of conductive hearing loss [5].
• It's crucial to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on individual circumstances.
• Orphan designation(s) and orphan drug status may also be relevant in the context of treating rare genetic conditions like ADND.

References: [3] Current clinical treatments for HHL are cochlear implants or hearing aids, which can improve auditory function in some patients. [5] For the autosomal dominant forms of deafness ... treatment may sometimes be proposed for some forms of conductive hearing loss. [6] For children with severe-to-profound HL, hearing aids may be insufficient for HL rehabilitation, and cochlear implantation should be considered. Cochlear ... [7] With gene therapy, the goal is to directly address the primary cause of hearing loss (DNA mutations). Multiple biotech companies are investing a ...

Autosomal dominant nonsyndromic deafness (ADND) can be challenging to diagnose, as it often presents with similar symptoms to other hearing loss conditions. However, there are some key factors that can help in making a differential diagnosis.

Key characteristics of ADND:

• Early onset: ADND typically begins at a young age, often before the age of 10 [1].
• Bilateral involvement: Hearing loss is usually present in both ears from the start [2].
• Progressive hearing loss: The condition tends to worsen over time, with some individuals experiencing significant hearing impairment by their mid-30s [3].
• High-frequency hearing loss: ADND often affects high-frequency sounds first, making it difficult for individuals to hear whispers or soft voices [4].

Differential diagnosis:

When considering a differential diagnosis for ADND, the following conditions should be ruled out:

• Autosomal recessive nonsyndromic deafness: This condition is typically congenital and often presents with severe hearing loss from birth [5].
• Sensory neural hearing loss: This type of hearing loss can be caused by various factors, including age-related hearing loss, noise exposure, or certain medications [6].
• Mixed hearing loss: This condition combines elements of both conductive and sensorineural hearing loss, often presenting with a combination of high-frequency and low-frequency hearing impairment [7].

Genetic considerations:

ADND is often caused by mutations in specific genes, such as DIAPH1 or GJB2. Identifying these genetic mutations can be crucial for making an accurate diagnosis and providing appropriate guidance to individuals and their families.

In summary, a differential diagnosis of ADND requires careful consideration of the condition's key characteristics, including early onset, bilateral involvement, progressive hearing loss, and high-frequency hearing impairment. Ruling out other conditions, such as autosomal recessive nonsyndromic deafness, sensory neural hearing loss, and mixed hearing loss, is also essential for making an accurate diagnosis.

References:

[1] Context 6 [2] Context 4 [3] Context 5 [4] Context 5 [5] Context 7 [6] Context 9 [7] Context 8