autosomal dominant nonsyndromic deafness 48

Autosomal dominant nonsyndromic deafness 48 (DFNA48) is a form of non-syndromic sensorineural hearing loss characterized by postlingual onset with progressive hearing loss [5][7]. This means that the hearing loss typically occurs after language development has taken place and tends to worsen over time.

The cause of DFNA48 is attributed to a mutation in the MYO1A gene, which is responsible for encoding a protein involved in the structure and function of the cochlear nerve [3]. As a result, individuals with this condition experience hearing impairment in one or both ears due to an abnormal functionality of the cochlear nerve.

DFNA48 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition. This means that if one parent has the mutation, each child has a 50% chance of inheriting it [6].

The clinical features of DFNA48 include progressive hearing loss, which can be unilateral or bilateral, and may vary in severity among affected individuals [4]. Early diagnosis and genetic testing are essential for confirming the presence of this condition and providing appropriate management strategies.

References: [1] Not available (Feature record) [2] Not available (Deafness, autosomal dominant 48 is a form of non-syndromic sensorineural hearing loss...) [3] Not available (Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.) [4] Not available (Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 48 and its clinical features, available genetic tests from US and labs...) [5] autosomal dominant deafness 48; DFNA48. Definition: An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive... [6] Feb 1, 2016 — Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal... [7] Disease Ontology Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and... [8] Not available (Name, autosomal dominant nonsyndromic deafness 48 ; Definition, An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with...) [9] DEAFNESS, AUTOSOMAL DOMINANT 48; DFNA48 · TEXT · ▻ Clinical Features · ▻ Inheritance · ▻ Mapping · ▻ Molecular Genetics · ▻ REFERENCES.

Autosomal dominant non-syndromic deafness, also known as DFNA2, 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 sufficient to express the phenotype.

Characteristics of Autosomal Dominant Non-Syndromic Deafness 48:

• Bilateral Hearing Loss: The hearing loss typically affects both ears and can range from mild to profound degrees.
• Symmetric Hearing Loss: The hearing loss tends to be symmetric, meaning that it affects both ears equally.
• High-Frequency Sensorineural Hearing Loss: The hearing loss is predominantly high-frequency sensorineural, which means that the individual may have difficulty hearing high-pitched sounds.
• Progressive Hearing Loss: The hearing loss can progress over time, meaning that it can worsen with age.

Other Information:

• Autosomal dominant non-syndromic deafness 48 is caused by mutations in an unknown gene (see [6] and [7]).
• The characteristics of autosomal dominant non-syndromic HL are heterogeneous, but in most cases, HL tends to be bilateral, post-lingual in onset, and progressive across all frequencies ([7]).

References:

[6] DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all frequencies. ([1])

[7] The characteristics of autosomal dominant non-syndromic HL are heterogenous. However, in most cases, HL tends to be bilateral, post-lingual in onset, and progressive across all frequencies. ([7])

Based on the provided context, there are several diagnostic tests available for autosomal dominant nonsyndromic deafness 48.

• Molecular Genetics Tests: These tests can identify genetic mutations that cause autosomal dominant nonsyndromic deafness 48. According to search result [11], Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) with CNV detection included offered by LifeLabs Genetics is one such test.
• Deletion/Duplication Analysis: This test can also identify genetic mutations that cause autosomal dominant nonsyndromic deafness 48. According to search result [12], Deletion/duplication analysis, CNV by qPCR offered by Centogene AG - the Rare Disease Company is one such test.
• Clinical Molecular Genetics Tests: These tests are designed to diagnose and confirm the presence of autosomal dominant nonsyndromic deafness 48. According to search result [11], Clinical Molecular Genetics test for Autosomal dominant nonsyndromic hearing loss 48 using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) with CNV detection included offered by LifeLabs Genetics is one such test.
• Clinical Resource: This resource provides information about autosomal recessive nonsyndromic hearing loss 48 and its clinical features. However, it may not be directly related to diagnostic tests for autosomal dominant nonsyndromic deafness 48.

It's worth noting that the National Institutes of Health (NIH) makes no endorsements of tests or laboratories listed in the Genetic Testing Registry (GTR), as stated in search result [13]. Therefore, it's essential to consult with a healthcare professional to determine the most appropriate diagnostic test for autosomal dominant nonsyndromic deafness 48.

Autosomal dominant nonsyndromic deafness 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. When it comes to drug treatment for this condition, there are limited options available.

According to search results [5], treatment may sometimes be proposed for some forms of conductive hearing loss associated with autosomal dominant nonsyndromic deafness. However, these treatments are not specifically targeted at the genetic cause of the hearing loss and may not provide a long-term solution.

Currently, there is no specific drug treatment available for autosomal dominant nonsyndromic deafness [1]. The primary goal of treatment is to manage symptoms and improve communication skills through the use of hearing aids or cochlear implants [3].

Gene therapy holds promise as a potential future treatment option for this condition. Researchers are exploring ways to directly address the primary cause of hearing loss, which is DNA mutations [7]. However, this area of research is still in its early stages.

It's essential to consult with a healthcare professional for medical advice and treatment regarding autosomal dominant nonsyndromic deafness [8][10].

References: [1] by M Aldè · 2023 · Cited by 30 [3] by L Jiang · 2023 · Cited by 51 [5] For the autosomal dominant forms of deafness ... treatment may sometimes be proposed for some forms of conductive hearing loss. [7] Aug 31, 2022 — With gene therapy, the goal is to directly address the primary cause of hearing loss (DNA mutations).

Autosomal dominant nonsyndromic deafness (ADNSHL) can be challenging to diagnose, as it often presents with similar symptoms to other hearing loss conditions. However, a differential diagnosis approach can help rule out other potential causes.

Key factors to consider:

• Family history: A positive family history of hearing loss is a strong indicator of ADNSHL [1].
• Age of onset: Early onset (before the age of 10) and progressive hearing loss are characteristic of ADNSHL [2].
• Bilateral involvement: Bilateral hearing loss, often with varying degrees of severity, is typical in ADNSHL [3].
• Genetic testing: Genetic testing can confirm mutations in genes associated with ADNSHL, such as DIAPH1 or MYO7A [4].

Differential diagnosis considerations:

• Sensory neural hearing loss (SNHL): SNHL can present similarly to ADNSHL, but it is often more severe and may be accompanied by other symptoms like tinnitus or vertigo.
• Mixed hearing loss: Mixed hearing loss, which combines conductive and sensorineural components, should also be considered in the differential diagnosis.
• Other genetic conditions: Certain genetic conditions, such as Usher syndrome or Pendred syndrome, can present with hearing loss and may need to be ruled out.

Diagnostic approach:

1. Medical history: A thorough medical history, including family history and age of onset, is essential for diagnosing ADNSHL.
2. Genetic testing: Genetic testing should be considered to confirm mutations in genes associated with ADNSHL.
3. Audiological evaluation: A comprehensive audiological evaluation, including pure-tone audiometry and speech audiometry, can help determine the extent and nature of hearing loss.

By considering these factors and differential diagnosis possibilities, healthcare providers can accurately diagnose autosomal dominant nonsyndromic deafness and develop an effective treatment plan for affected individuals.

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 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 ...

[3] Context 5: Autosomal dominant forms are characterised by very early onset and bilateral hearing loss with varying degrees of severity (ranging from mild to profound). No ...

[4] Context 4: by M Aldè · 2023 · Cited by 31 — DFNA1 is due to mutations in the DIAPH1 gene on chromosome 5q31 and causes progressive low-frequency HL, resulting in a profound degree by the ...