autosomal dominant nonsyndromic deafness 43

Autosomal dominant nonsyndromic deafness 43, also known as DFNA43, is a form of hearing loss that is inherited in an autosomal dominant pattern.

• Inheritance: This type of hearing loss is caused by variations in the chromosome region 2p12 and is inherited from one's parents in an autosomal dominant manner [1][5].
• Clinical features: The clinical features of DFNA43 include bilateral symmetrical progressive sensorineural hearing loss, which can be severe later in life, as well as tinnitus (variable manifestation) [4].
• Age of onset: The age of onset for this type of hearing loss is typically during the second/third decade of life, with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life [7].

It's worth noting that autosomal dominant nonsyndromic deafness 43 is a relatively rare form of hearing loss, and more research is needed to fully understand its characteristics and inheritance patterns.

References:

[1] Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 43 and its clinical features...

[4] Symptoms · hearing loss, sensorineural, bilateral symmetrical, progressive (severe later in life) · tinnitus (variable manifestation) ...

[5] An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.

[7] Onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life.

Based on the provided context, here are the signs and symptoms associated with autosomal dominant non-syndromic deafness:

• Hearing Loss: Autosomal dominant non-syndromic deafness is characterized by a partial or total loss of hearing that is not associated with other signs and symptoms [1][2].
• Congenital Hearing Loss: This condition is generally congenital, meaning it is present at birth [5].
• Limited to Low Frequencies: The hearing loss in autosomal dominant non-syndromic deafness is typically limited to low frequencies (2000 Hz and below) [5].
• Slowly Progressive: The condition tends to progress slowly, but may not reach a severe-to-profound range [5].

It's worth noting that the provided context does not mention any specific signs or symptoms beyond hearing loss. However, based on the information available, it appears that autosomal dominant non-syndromic deafness is primarily characterized by hearing loss.

References: [1] Context result 2 [2] Context result 3 [5] Context result 5

Autosomal dominant nonsyndromic deafness (ADNSHL) can be diagnosed through various genetic tests. Here are some diagnostic tests that may be used to identify the condition:

• Genetic testing: Molecular genetic testing, available in clinical laboratories for many types of syndromic and nonsyndromic deafness, plays a crucial role in diagnosing ADNSHL [8]. This type of testing can detect mutations in specific genes associated with ADNSHL.
• Exome sequencing: Exome sequencing is a comprehensive genetic test that examines the protein-coding regions of the genome (exons) for mutations. It is most commonly used to diagnose ADNSHL, and can identify mutations in multiple genes [1].
• 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. This test is specifically designed to detect mutations in the GJB2 gene, which is associated with ADNSHL [12].
• Gene-specific mutation screening: 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 may be performed. This test involves examining specific genes associated with ADNSHL for mutations [12].

It's worth noting that diagnosis of ADNSHL requires an evaluation with appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, and clinical genetics [5]. Additionally, different variants in the same gene can cause different forms of hearing loss, so a comprehensive genetic analysis is necessary to determine the underlying cause of the condition.

References:

[1] by RJH Smith · 2018 · Cited by 18 — Exome sequencing is most commonly used; genome sequencing is also possible. Exome array (when clinically available) may be considered if exome ...

[5] 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 RJH Smith · Cited by 241 — Diagnosis/testing.​​ Molecular genetic testing, available in clinical laboratories for many types of syndromic and nonsyndromic deafness, plays a ...

[12] 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 ...

Autosomal dominant nonsyndromic deafness (ADND) is a genetic hearing loss condition that affects approximately 10-15% of cases [5]. While there is no specific drug treatment for ADND, the primary goal of treatment is to manage and improve hearing thresholds through audiological follow-up and prompt intervention with hearing aids or cochlear implants [1].

According to recent studies, a long audiological follow-up is crucial in identifying hearing threshold deteriorations early and ensuring timely treatment [1][6]. However, there is currently no specific drug therapy available for ADND.

Gene therapy has shown promise in addressing the primary cause of hearing loss (DNA mutations) in some cases [7]. Nevertheless, this approach is still under investigation and not yet widely available as a treatment option.

In terms of management, hearing aids or cochlear implants may be recommended to improve communication skills and overall quality of life for individuals with ADND [1][6].

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can provide guidance on the most suitable options based on individual circumstances.

References: [1] by M Aldè · 2023 · Cited by 31 [5] Autosomal dominant inheritance accounts for between 10 and 15% of cases (DFNA type) [6] by M Aldè · 2023 · Cited by 31 [7] Aug 31, 2022

Autosomal dominant nonsyndromic deafness can be challenging to diagnose, as it presents with a wide range of symptoms and characteristics. However, there are several key factors that can help in making a differential diagnosis.

Key Features:

• Early onset: Autosomal dominant nonsyndromic deafness often begins at a young age, sometimes even before birth.
• Bilateral hearing loss: The condition typically affects both ears, with varying degrees of severity.
• Progressive hearing loss: Hearing impairment can worsen over time, although the rate of progression varies among individuals.
• High-frequency hearing loss: Autosomal dominant nonsyndromic deafness often involves high-frequency hearing loss, particularly in the range of 2-8 kHz.

Differential Diagnosis:

When considering a differential diagnosis for autosomal dominant nonsyndromic deafness, several conditions should be ruled out:

• Autosomal recessive non-syndromic deafness: This condition is more common and often presents with prelingual hearing loss.
• X-linked or mitochondrial inheritance: These forms of inherited deafness are less common but can present with similar symptoms.
• Sensory neural hearing loss: This type of hearing loss can be caused by various factors, including infections, trauma, or exposure to ototoxic substances.

Genetic Considerations:

Autosomal dominant nonsyndromic deafness is often associated with mutations in specific genes, such as:

• KCNQ4: Mutations in this gene are a common cause of autosomal dominant nonsyndromic deafness.
• MYO6: This gene is responsible for another form of autosomal dominant nonsyndromic deafness.

Diagnostic Testing:

To confirm the diagnosis, various tests can be performed, including:

• Genetic testing: Analysis of DNA from blood or saliva samples to identify mutations in specific genes.
• Audiological evaluation: Comprehensive hearing assessments to determine the extent and nature of hearing loss.
• Imaging studies: CT or MRI scans may be used to rule out other conditions that could cause similar symptoms.

References:

• [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.
• [11] A hearing loss multigene panel that includes all genes implicated in nonsyndromic hearing loss and disorders that mimic nonsyndromic hearing loss including GJB2 and other genes of interest (see Differential Diagnosis and Genetic Hearing Loss Overview) is most likely to identify the genetic cause of the condition while limiting identification of ...