autosomal dominant nonsyndromic deafness 69

Autosomal dominant nonsyndromic deafness 69, also known as congenital unilateral hearing loss or DFNA69, is a form of non-syndromic, sensorineural deafness characterized by hearing loss in one ear [3]. Some patients may experience difficulty or inability to hear in the affected ear, while the other ear remains unaffected [6].

This condition is caused by a mutation in the KITLG gene on chromosome 12q21 [7][9]. The KITLG gene plays a crucial role in the development and function of the inner ear, and mutations in this gene can lead to hearing loss.

Autosomal dominant nonsyndromic deafness 69 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition [8]. This means that if one parent has the mutation, each child has a 50% chance of inheriting it and developing the condition.

The symptoms of autosomal dominant nonsyndromic deafness 69 can vary in severity, but they typically become apparent at birth or during early childhood. Treatment options are limited, and management focuses on addressing any associated hearing difficulties through the use of hearing aids or cochlear implants [3].

References: [1] Not applicable [2] Not applicable [3] Context #3 [6] Context #6 [7] Context #7 [8] Context #8 [9] Context #9

Autosomal dominant nonsyndromic deafness, also known as DFNA, typically presents with hearing loss that is not associated with other signs or symptoms.

• Hearing loss can be partial or total, affecting one (unilateral) or both (bilateral) ears [1].
• The hearing loss may range from mild to profound degrees of hearing loss [2].
• It is often inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene in each cell is sufficient to result in hearing loss [3].

It's worth noting that people with autosomal dominant deafness most often inherit an altered copy of the gene from a parent who has hearing loss [4]. The condition typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype [5].

References: [1] - Hearing loss can affect one (unilateral) or both (bilateral) ears and can range from mild to profound degrees of hearing loss. [2] - The hearing loss may also be stable or progressive, meaning that it can change over time. [3] - which means one copy of the altered gene in each cell is sufficient to result in hearing loss. [4] - People with autosomal dominant deafness most often inherit an altered copy of the gene from a parent who has hearing loss. [5] - The condition typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype.

Autosomal dominant nonsyndromic deafness (ADNSHL) 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. Diagnostic tests for ADNSHL typically involve genetic testing and evaluation by a qualified healthcare professional.

Genetic Testing

Genetic testing is the primary diagnostic tool for ADNSHL. This involves analyzing DNA samples from affected individuals to identify mutations in genes associated with the condition. The most common genetic test used for ADNSHL is exome sequencing, which examines the protein-coding regions of the genome (1). Exome array testing may also be considered if exome sequencing is not available (1).

Other Diagnostic Tests

In addition to genetic testing, other diagnostic tests may be performed to rule out other conditions that can cause hearing loss. These include:

• CT scans: To evaluate malformations of the inner ear, which are often associated with ADNSHL (7).
• Thyroid function tests: In rare cases, thyroid gland disease may also be present in individuals with ADNSHL (7).

Evaluation by a Qualified Healthcare Professional

A diagnosis of ADNSHL requires an evaluation by a qualified healthcare professional with expertise in the genetics of hearing loss and dysmorphology (6). This evaluation will involve a comprehensive review of the individual's medical history, family history, and physical examination.

References:

• [1] Exome sequencing is most commonly used; genome sequencing is also possible. Exome array (when clinically available) may be considered if exome sequencing is not available.
• [6] Diagnosis of NSHL requires an evaluation with appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, ...
• [7] This form of deafness is always associated with malformations of the inner ear that can be detected by CT scan. In rare cases, thyroid gland disease may also be present.

Note: The above information is based on the search results provided and may not be an exhaustive list of diagnostic tests for ADNSHL.

Autosomal dominant nonsyndromic deafness (ADNSHL) is a genetic disorder 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 in children with severe-to-profound HL [6].

Emerging treatment approaches:

• Gene therapy is being explored as a potential treatment option for ADNSHL. 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 for treating ADNSHL.

Important considerations:

• Treatment may sometimes be proposed for some forms of conductive hearing loss associated with autosomal dominant deafness [5].
• It's crucial to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on individual circumstances [8][10].

In summary, while there are no specific drug treatments available for autosomal dominant nonsyndromic deafness, emerging approaches like gene therapy hold promise for future research. However, more studies are needed to determine their effectiveness and safety.

References: [3] Jiang L (2023) cited by 51 [5] Orphan designation(s) and orphan [number not specified] [6] Aldè M (2023) cited by 31 [7] Aug 31, 2022 - [number not specified] [8][10] Print. Disease Overview. Any autosomal dominant nonsyndromic deafness in which...

Autosomal dominant nonsyndromic deafness (ADNSHL) can be challenging to diagnose, as it often presents with similar symptoms to other forms of hearing loss. However, there are several key factors that can help differentiate ADNSHL from other conditions:

• Family history: A strong family history of hearing loss is a hallmark of ADNSHL [1]. If multiple family members have been diagnosed with hearing loss, it may indicate an autosomal dominant inheritance pattern.
• Age of onset: ADNSHL often presents in childhood or adolescence, although it can also occur later in life [2].
• Progression of hearing loss: In ADNSHL, the hearing loss is typically progressive and can worsen over time [3].
• Type of hearing loss: ADNSHL is characterized by a predominantly high-frequency sensorineural hearing loss (SNHL) that is symmetric across both ears [4].

To rule out other conditions that may present with similar symptoms, it's essential to consider the following:

• Autosomal recessive nonsyndromic deafness: This condition often presents with a more severe and progressive hearing loss, particularly in childhood [5].
• Sensory neural hearing loss due to other causes: Other conditions such as ototoxicity, meningitis, or acoustic neuroma can also cause sensorineural hearing loss and must be ruled out through further investigation.
• Syndromic hearing loss: Certain genetic syndromes, such as Usher syndrome or Pendred syndrome, can also present with hearing loss. A thorough medical history and physical examination are essential to identify these conditions.

In summary, a differential diagnosis of ADNSHL requires careful consideration of the patient's family history, age of onset, progression of hearing loss, and type of hearing loss. Further investigation may be necessary to rule out other conditions that can present with similar symptoms.

References:

[1] Context 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] Context 7: by Y Feng · 2023 · Cited by 1 — Individuals with nonsyndromic deafness have only symptoms of deafness. In most cases, the onset of non-syndromic deafness in patients with autosomal dominant ...

[3] Context 6: 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 ...

[4] Context 3: by RJH Smith · 2018 · Cited by 18 — DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all ...

[5] Context 9: by B Vona · 2015 · Cited by 117 — Non-syndromic hearing loss (NSHL) generally follows simple Mendelian inheritance and is predominantly transmitted as an autosomal recessive trait (75–80%), ...