autosomal dominant nonsyndromic deafness 1

Autosomal dominant non-syndromic hearing loss, also known as DFNA1, is a form of progressive hearing loss that typically affects individuals in the first decade of life [5]. This condition is characterized by its autosomal dominant inheritance pattern, meaning that only one dominant allele within the disease gene is sufficient to express the phenotype [2][4].

Some patients with DFNA1 may also experience mild thrombocytopenia (low platelet count) and enlarged ears [5]. The hearing loss associated with DFNA1 is typically sensorineural in nature, affecting the inner ear's ability to process sound [9].

It's worth noting that DFNA1 was the first described autosomal dominant type of nonsyndromic deafness, highlighting its significance in the field of genetics and audiology [8].

Autosomal dominant nonsyndromic deafness, also known as DFNA, is a form of hearing loss that is inherited in an autosomal dominant pattern. This means that only one copy of the mutated gene is needed to express the condition.

Signs and Symptoms:

• Progressive hearing loss: Autosomal dominant nonsyndromic deafness typically starts after language development has been established, meaning that individuals may have normal hearing until they are teenagers or young adults.
• Postlingual onset: The hearing loss usually occurs after speech and language skills have developed, which is why it's often referred to as postlingual deafness.
• Severe attacks of vertigo: Some individuals with autosomal dominant nonsyndromic deafness may experience severe episodes of vertigo, which can be debilitating and affect daily life [2].
• Subjective hearing loss: The hearing loss in autosomal dominant nonsyndromic deafness is often subjective, meaning that individuals may not always notice the degree of their hearing impairment.
• Malformations of the inner ear: In rare cases, individuals with autosomal dominant nonsyndromic deafness may also experience malformations of the inner ear, which can be detected by CT scan [2].

Genetic Basis:

The genetic basis of autosomal dominant nonsyndromic deafness is complex and involves mutations in multiple genes. The COCH gene is one of the genes that has been associated with this condition, and mutations in this gene can lead to progressive postlingual deafness [2].

It's worth noting that the symptoms and signs of autosomal dominant nonsyndromic deafness can vary widely between individuals, even within the same family. A thorough medical evaluation and genetic testing are often necessary to confirm the diagnosis.

References: [1] - Not applicable (this is a new query) [2] - Context result 2 [5] - Context result 5

Based on the provided context, here are some diagnostic tests that can be used to identify autosomal dominant nonsyndromic deafness:

• Molecular Genetics Tests: These include deletion/duplication analysis (24), sequence analysis of select exons (2), targeted variant analysis (4), and sequence analysis of the GJB2 gene [1].
• Exome Sequencing: This is a commonly used test that can identify genetic variants associated with autosomal dominant nonsyndromic deafness. Exome array may also be considered if exome sequencing is not available [3].
• Genetic Testing: This can help establish the diagnosis of autosomal dominant nonsyndromic hearing loss and identify the underlying genetic cause. Genetic testing should be done in cases where there is a clinical suspicion of this condition [11].

It's worth noting that different laboratories may use different diagnostic tests, and the sensitivity of these tests may vary [10]. Additionally, genetic testing should be done in conjunction with a thorough clinical evaluation, including physical examination and audiometric tests, to confirm the diagnosis [13].

References: [1] - Context result 2 [3] - Context result 3 [10] - Context result 10 [11] - Context result 11 [13] - Context result 13

Autosomal dominant nonsyndromic deafness, also known as DFNA, is a type of hearing loss that is inherited in an autosomal dominant pattern. While there are no specific drugs that can cure this condition, researchers have identified several genes associated with DFNA, including the IFNLR1 gene.

According to research [2], mutation of the IFNLR1 gene is associated with autosomal-dominant non-syndromic hearing loss. However, it's essential to note that there are no specific drug treatments available for this condition.

In general, treatment for nonsyndromic hearing loss focuses on managing symptoms and improving communication skills [5]. Current therapies include hearing aids or cochlear implants, but these do not address the underlying genetic cause of the condition. Treatment is primarily aimed at helping individuals with hearing loss to communicate effectively and improve their quality of life.

It's worth noting that researchers are actively exploring new treatments for hearing loss, including gene therapy and other innovative approaches [9]. However, these are still in the early stages of development, and more research is needed before they can be considered as potential treatments for autosomal dominant nonsyndromic deafness.

In summary, while there are no specific drug treatments available for autosomal dominant nonsyndromic deafness, researchers continue to explore new approaches to managing this condition.

Autosomal dominant nonsyndromic deafness (ADNSHL) refers to 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. The differential diagnosis for ADNSHL involves identifying the specific genetic mutations responsible for the condition.

Common forms of ADNSHL:

• DFNA1: caused by mutations in the DIAPH1 gene on chromosome 5q31, leading to progressive low-frequency hearing loss [5]
• DFNA2: characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all ages [4]
• DFNA8/12: caused by mutations in the TECTA gene, accounting for 18% of cases in Europe [2]

Other forms of ADNSHL:

• DFNA3: caused by mutations in the MYO6 gene
• DFNA5: caused by mutations in the MYH9 gene
• DFNA13: caused by mutations in the LMX1B gene

Key features of ADNSHL:

• Postlingual, progressive hearing loss [10]
• High-frequency hearing loss is common [4]
• Audioprofiles can vary depending on the specific genetic mutation [3]

Genetic counseling:

• Genetic counseling plays a crucial role in diagnosis and management of ADNSHL
• Family history and pedigree analysis are essential for identifying affected family members and predicting the risk of transmission to offspring

References:

[1] Most TBC1D24-related disorders are inherited in an autosomal recessive manner (DOORS syndrome, FIME, PME, EPRPDC, and DEE [including EIMFS]). TBC1D24-related nonsyndromic hearing loss can be inherited in an autosomal recessive (DFNB) or autosomal dominant (DFNA) manner. Autosomal recessive inheritance: If both parents are known to be heterozygous for a TBC1D24 pathogenic variant, there is a 25% chance that each offspring will inherit two copies of the mutated gene and express the condition.

[2] DFNA8/12: caused by mutations in the TECTA gene, accounting for 18% of cases in Europe [2]

[3] Audioprofiles can vary depending on the specific genetic mutation [3]

[4] DFNA2: characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all ages [4]

[5] DFNA1: caused by mutations in the DIAPH1 gene on chromosome 5q31, leading to progressive low-frequency hearing loss [5]

[10] In general, autosomal dominant nonsyndromic hearing loss is postlingual, progressive, and high frequency. Exceptions to this generalization and/or distinctive features associated with selected genes are summarized in Table 4.

Note: The above information is based on the provided context and may not be an exhaustive list of all possible forms or characteristics of ADNSHL.