autosomal dominant nonsyndromic deafness 30

Autosomal dominant non-syndromic deafness 30, also known as DFNA30, is a genetic condition characterized by progressive hearing loss with onset in the second decade of life. This form of deafness typically affects high frequencies first.

According to medical resources [4], autosomal dominant non-syndromic deafness 30 (DFNB30) is characterized by progressive hearing loss with onset in the second decade of life. The high frequencies are affected first, and this condition is inherited in an autosomal dominant pattern.

Autosomal dominant non-syndromic deafness 30 is caused by variations in the chromosome region 15q25-q26 [12]. This genetic mutation leads to hearing loss that can be partial or total, and it is not associated with any other signs or symptoms.

It's worth noting that autosomal dominant non-syndromic deafness 1 (DFNA1) is a different condition, which also affects the chromosome region 15q25-q26 [9]. However, DFNB30 specifically refers to the condition described in this context.

Autosomal dominant nonsyndromic deafness 30 (ADND30) is a genetic form of hearing loss that affects approximately 15% of all cases of non-syndromic hearing loss. The signs and symptoms of ADND30 are as follows:

• High-frequency hearing loss: Individuals with ADND30 typically experience high-frequency hearing loss, which means they have difficulty hearing sounds above 2000 Hz.
• Progressive hearing loss: The hearing loss associated with ADND30 is progressive, meaning it worsens over time. In most cases, the first audiometric abnormalities are observed between 6 to 10 years of age.
• Postlingual deafness: ADND30 is characterized by postlingual deafness, which means the hearing loss occurs after language development has taken place.
• Sensorineural hearing loss: The type of hearing loss associated with ADND30 is sensorineural, meaning it affects the inner ear and the nerve pathways that transmit sound signals to the brain.

It's worth noting that individuals with ADND30 may not experience any noticeable symptoms until later in life. By age 50, individuals with ADND30 typically present profound sensorineural hearing loss [14].

References: [1] - The most common genes in cases of autosomal dominant nonsyndromic hearing loss are recognized by their associated syndromic features, but in most cases, hearing loss is the only symptom. [10] [2] - Autosomal dominant deafness 30 (ADND30) is characterized by high-frequency, progressive, postlingual sensorineural nonsyndromic hearing loss. The first audiometric abnormalities are generally observed between 6 to 10 years of age. By age 50, individuals with ADND30 present profound sensorineural hearing loss. [14] [3] - Nonsyndromic hearing impairment may be referred to by the gene involved (e.g., OTOF-related deafness) or by the genetic locus (e.g., DFN...). Note: Nonsyndromic hearing impairment may also refer to ADND30. [15] [4] - The clinical spectrum of autosomal dominant nonsyndromic deafness 30 may range from the lack of symptoms to vertigo and deafness. Autosomal recessive causes for NSHL. The most common genes in cases of autosomal dominant nonsyndromic hearing loss are recognized by their associated syndromic features, but in most cases, hearing loss is the only symptom. [9]

Autosomal dominant nonsyndromic hearing loss (ADNSHL) can be diagnosed through various genetic tests, which are crucial for identifying the underlying cause of the condition and providing a precise diagnosis. Here are some diagnostic tests used to identify ADNSHL:

• Exome sequencing: This is a comprehensive test that analyzes all protein-coding genes in the genome, including those associated with ADNSHL. Exome sequencing can identify mutations in multiple genes simultaneously [3].
• Genome sequencing: This test examines the entire genome and can be used to identify rare or novel mutations causing ADNSHL.
• Exome array: When clinically available, an exome array may be considered as a less expensive alternative to exome sequencing. It analyzes specific regions of the genome associated with hearing loss [3].
• Sequence analysis of the entire coding region: This test examines the entire coding region of specific genes associated with ADNSHL, such as GJB2 and others.
• Bi-directional Sanger Sequence Analysis: This is a more targeted test that analyzes specific regions of the genome associated with ADNSHL.

It's essential to note that diagnosis requires an evaluation by appropriate core medical personnel with expertise in genetics, dysmorphology, and hearing loss [5]. Additionally, clinical genetic tests are available for conditions like autosomal dominant nonsyndromic hearing loss 20, as offered by Fulgent Genetics [6].

References: [3] Smith RJ. Genetics: advances in genetic testing for deafness. Curr Opin Pediatr. 2012 Dec;24(6):679-86. [5] Jan 1, 2024 — Diagnosis of NSHL requires an evaluation with appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, ... [6] Clinical Genetic Test offered by Fulgent Genetics for conditions (146): Autosomal dominant nonsyndromic hearing loss 20; Absent speech; Arts syndrome; .

Autosomal dominant nonsyndromic deafness, also known as autosomal dominant hearing loss, is a genetic condition that affects the ability to hear. While there are no specific drugs that can cure this condition, researchers have been exploring various treatment options.

Current Treatment Options

According to search results [1], current clinical treatments for autosomal dominant nonsyndromic deafness include cochlear implants or hearing aids, which can improve auditory function in some patients. However, neither method can restore normal hearing [3].

Gene Therapy and Future Directions

Researchers are also exploring gene therapy as a potential treatment option for autosndomiant non-syndromic deafness. Gene therapy aims to directly address the primary cause of hearing loss (DNA mutations) by introducing healthy copies of the affected gene into the patient's cells [7]. This approach has shown promise in preclinical studies, but more research is needed to determine its efficacy and safety in humans.

Other Considerations

It's worth noting that treatment may sometimes be proposed for some forms of conductive hearing loss associated with autosomal dominant nonsyndromic deafness [5]. However, the effectiveness of these treatments can vary depending on individual circumstances. As such, it's essential to consult with a healthcare professional for personalized medical advice and treatment.

Inheritance Patterns

Autosomal dominant nonsyndromic deafness is inherited in an autosomal dominant pattern, which means that only one copy of the mutated gene is needed to cause the condition [4]. This can lead to a range of symptoms, from mild hearing loss to severe-to-profound hearing impairment. In some cases, prenatal counseling may be recommended for families with a history of this condition.

References:

[1] by M Aldè · 2023 · Cited by 30 [3] by L Jiang · 2023 · Cited by 51 [4] [5] [7]

Autosomal dominant nonsyndromic deafness (ADNSHL) can be challenging to diagnose, but a thorough differential diagnosis is essential to rule out other conditions that may present with similar symptoms. Here are some key points to consider:

• DFNA1: This is one of the most common forms of ADNSHL, caused by mutations in the DIAPH1 gene on chromosome 5q31. It typically presents with progressive low-frequency hearing loss, leading to profound deafness by the fourth decade of life [2][4].
• DFNA6/14/38: This form of ADNSHL is associated with mutations in the WFS1 gene and can present with mid-frequency hearing loss [9].
• Other forms of ADNSHL: There are several other genes that have been implicated in ADNSHL, including GJB2, SLC26A4, and MYO7A. These conditions may present with a range of hearing loss patterns, from low to high frequencies [1][5].

When considering the differential diagnosis of ADNSHL, it's essential to remember that:

• Genetic testing: Genetic testing can help identify the underlying cause of ADNSHL in many cases. However, it's crucial to consider the genetic heterogeneity of this condition and the possibility of multiple mutations contributing to the disease [6].
• Clinical evaluation: A thorough clinical evaluation is necessary to rule out other conditions that may present with similar symptoms, such as sensorineural hearing loss or auditory neuropathy [3][7].

In summary, a differential diagnosis of ADNSHL requires consideration of various forms of the condition, including DFNA1, DFNA6/14/38, and other genetic causes. Genetic testing and clinical evaluation are essential tools in making an accurate diagnosis.

References:

[1] - [10] correspond to the search results provided in the context block.