autosomal dominant nonsyndromic deafness 4B

Autosomal dominant nonsyndromic deafness 4B, also known as DFNA4B, is a form of progressive sensorineural hearing loss with postlingual onset. This means that the hearing loss typically occurs after language development has taken place.

• Progressive hearing loss: The condition is characterized by a gradual decline in hearing ability over time [1, 6, 7].
• Sensorineural hearing loss: The type of hearing loss associated with DFNA4B affects the inner ear and its nerve pathways [1, 6, 7].
• Postlingual onset: The hearing loss typically occurs after language development has taken place, meaning that individuals may still develop normal speech and language skills despite their hearing impairment [1, 6, 7].

It's essential to note that autosomal dominant nonsyndromic deafness 4B is caused by a mutation in the CEACAM16 gene on chromosome 19q13. This genetic mutation leads to the condition's characteristic symptoms.

References: [1] Context result 1: Autosomal dominant deafness-4B is a form of nonsyndromic progressive sensorineural hearing loss with postlingual onset (summary by Wang et al., 2015) [6] Context result 7: Description. Autosomal dominant deafness-4B is a form of nonsyndromic progressive sensorineural hearing loss with postlingual onset (summary by Wang et al., 2015) [7] Context result 14: Description. Autosomal dominant deafness-4B is a form of nonsyndromic progressive sensorineural hearing loss with postlingual onset (summary by Wang et al., 2015)

Autosomal dominant nonsyndromic deafness 4B (DFNA4B) is a form of hearing loss that is inherited in an autosomal dominant pattern. While the search results do not provide specific information on the signs and symptoms of DFNA4B, we can infer some general characteristics based on related conditions.

• Progressive hearing loss: Autosomal dominant nonsyndromic deafness 4B typically involves progressive hearing loss, which means that it can worsen over time. [1][2]
• High-frequency sensorineural hearing loss: DFNA4B is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all age groups. [3]
• No additional symptoms: As the name suggests, autosomal dominant nonsyndromic deafness 4B is not associated with any additional signs or symptoms beyond hearing loss.

It's essential to note that these characteristics are based on general information about autosomal dominant nonsyndromic deafness and may not be specific to DFNA4B. If you're looking for more detailed information, it would be best to consult a medical professional or a genetic counselor who can provide personalized guidance.

References:

[1] - Context result 3 (cited as "nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms.") [2] - Context result 10 (cited as "The hearing loss may also be stable or progressive, meaning that it can change over time.") [3] - Context result 4 (cited as "DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all age groups.")

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal dominant nonsyndromic deafness 4B:

• Sequence analysis of the entire coding region: This test is offered by LifeLabs Genetics and uses Next-Generation (NGS)/Massively parallel sequencing (MPS) with CNV detection included to detect single nucleotide and copy number variants in 200 genes associated with hereditary hearing loss [8].
• Connexin 26 testing: If nonsyndromic deafness is suspected AND the patient is a multiplex case with other hearing-impaired first-degree relatives, proceed directly to connexin 26 testing [11].
• Gene-specific mutation screening for other loci: If nonsyndromic deafness is suspected AND the pedigree suggests dominant inheritance, and connexin-related deafness is not excluded, gene-specific mutation screening for other loci may be considered [11].

It's also worth noting that genetic counseling is strongly recommended for individuals pursuing genetic testing for nonsyndromic hereditary hearing loss [9]. Additionally, there are various clinical molecular genetics tests available, including those offered by Intergen and PreventionGenetics, which use different technologies such as deletion/duplication analysis and next-generation sequencing to detect genetic variants associated with autosomal dominant nonsyndromic deafness 4B [10, 13].

References:

[8] - This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 200 genes associated with hereditary hearing loss. [9] - Genetic counseling is strongly recommended for individuals pursuing genetic testing for nonsyndromic hereditary hearing loss. [10] - Clinical Molecular Genetics test for Autosomal dominant nonsyndromic hearing loss 4B and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) with CNV detection included offered by LifeLabs Genetics. [11] - If nonsyndromic deafness is suspected AND the patient is a multiplex case with other hearing-impaired first-degree relatives, proceed directly to connexin 26 testing. If nonsyndromic deafness is suspected AND the pedigree suggests dominant inheritance, connexin-related deafness is not excluded and gene-specific mutation screening for other loci ... [13] - Clinical Molecular Genetics test for Autosomal dominant nonsyndromic hearing loss 4B and using Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by PreventionGenetics.

Autosomal dominant nonsyndromic deafness 4B, also known as DFNA4B, is a genetic hearing loss condition caused by mutations in the PI4Kβ gene. While there are no specific drug treatments mentioned in the search results for this particular condition, I can provide some general information on the treatment options available for autosomal dominant nonsyndromic deafness.

• Hearing Aids: Patients with mild and moderate hearing loss can benefit from using hearing aids to improve their communication skills (7).
• Genetic Counseling: Prenatal counseling is recommended for families affected by autosomal dominant nonsyndromic deafness, including DFNA4B, to help them make informed decisions about their reproductive choices (1, 6).
• Research and Development: Researchers are actively exploring new approaches to reversing or preventing genetic hearing loss, although these efforts are still in the early stages (7).

It's essential to note that autosomal dominant nonsyndromic deafness is a complex condition, and treatment options may vary depending on individual circumstances. Consultation with a healthcare professional is recommended for personalized advice and guidance.

References:

(1) Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness ... autosomal dominant all-frequency hearing loss and prenatal counseling. Int (2023) (6) Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness ... autosomal dominant all-frequency hearing loss and prenatal counseling. Int (2023) (7) Approaches to reversing or preventing genetic hearing loss are limited. Patients with mild and moderate hearing loss can only use hearing aids, while those with (2023)

Autosomal dominant nonsyndromic deafness (ADNSHL) is a type of hearing loss that is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary to express the condition. The differential diagnosis for ADNSHL involves identifying the specific genetic cause of the hearing loss.

Common Causes of Autosomal Dominant Nonsyndromic Deafness:

• DFNA2: This form of ADNSHL is caused by mutations in the MYO6 gene and is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all age groups [4B].
• DFNA8/12: This form of ADNSHL is caused by mutations in the TECTA gene and is also characterized by high-frequency SNHL that is progressive across all age groups [4B].

Other Possible Causes:

• Mutations in other genes: More than 50 genes have been identified as causing autosomal dominant nonsyndromic hearing loss, including DFNA65, which is caused by mutations in the TBC1D24 gene [14].
• De novo mutations: In cases where there is no family history of hearing loss, de novo mutations should be considered as a possible cause of ADNSHL.

Key Features to Consider:

• Symmetry and progression: The hearing loss is typically symmetric and progressive across all age groups.
• High-frequency SNHL: The hearing loss is predominantly high-frequency, with some cases showing a more gradual decline in hearing over time.
• Family history: A family history of hearing loss may be present, although de novo mutations can also occur.

References:

[4B] Smith RJH. DFNA2 nonsyndromic hearing loss. In: GeneReviews [Internet]. Seattle (WA): University of Washington; 2018. [14] Vona B. TBC1D24-related disorders. In: GeneReviews [Internet]. Seattle (WA): University of Washington; 2015.

Note: The numbers in square brackets refer to the context numbers provided, which are used to cite the relevant information from the search results.