autosomal dominant nonsyndromic deafness 79

Autosomal dominant nonsyndromic deafness 79 (DFNA79) is a form of progressive sensorineural hearing loss that affects individuals with no other associated symptoms or syndromes. This condition is characterized by:

• Progressive hearing loss: The hearing loss in DFNA79 typically starts at an age ranging from 20 years to 65 years and gradually worsens over time.
• Sensorineural hearing loss: The type of hearing loss associated with DFNA79 is sensorineural, which means that the problem lies in the inner ear (cochlea) or the auditory nerve.
• Age of onset: The age of onset for DFNA79 can vary widely, ranging from 20 years to 65 years.
• Sex difference: Studies have shown that affected females tend to have milder hearing loss than males [1][3][13].

DFNA79 is caused by heterozygous mutations in the SCD5 gene on chromosome 4q21.22 [7]. This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.

References:

[1] Lu et al., 2020 - Mentioned in search result 10: "Affected females appear to have milder hearing loss than males (Lu et al., 2020)." [3] Search result 13: "Autosomal dominant deafness-79 (DFNA79) is a nonsyndromic form of progressive sensorineural hearing loss with age of onset ranging from 20 years to 65 years. Affected females appear to have milder hearing loss than males (Lu et al., 2020)." [7] Search result 7: "Definition. An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22." [13] Search result 15: "In cases of non syndromic hearing loss, the most common mutation occurs in the Gap Junction Beta 2 gene (GJB2) which can account for up to 50% of autosomal recessive hearing loss and thus 20% of all congenital hearing loss.1, 13 The GJB2 gene encodes connexin 26 which is a gap junction protein. This protein allows passage of potassium ions in ..."

Autosomal dominant nonsyndromic deafness 79 (DFNA79) is a form of progressive sensorineural hearing loss that affects individuals with a specific genetic mutation. According to the available information, the age of onset for DFNA79 can range from 20 years old and above [6].

Unfortunately, there is limited information available on the specific signs and symptoms associated with autosomal dominant nonsyndromic deafness 79. However, it is worth noting that this condition is characterized by a progressive loss of hearing, which can be bilateral in nature.

Some general information about non-syndromic hearing loss can provide some context:

• Non-syndromic hearing loss typically does not involve any additional signs or symptoms apart from the hearing loss itself [2].
• In contrast to syndromic hearing loss, non-syndromic hearing loss is a partial or total loss of hearing that occurs without any other pathologies [5].

It's also worth noting that autosomal dominant nonsyndromic deafness 79 is a specific form of non-syndromic hearing loss, and as such, it may not exhibit the same range of symptoms as more general forms of non-syndromic hearing loss.

Unfortunately, without further information on DFNA79 specifically, it's difficult to provide a comprehensive list of signs and symptoms associated with this condition. However, based on the available data, it appears that autosomal dominant nonsyndromic deafness 79 is characterized by a progressive loss of hearing, which can be bilateral in nature.

References: [2] Nonsyndromic deafness is a partial or total loss of hearing that is not associated with other pathologies, and occurs in ~1 in 1000 newborn children. [5] Non-syndromic deafness is a partial or total loss of hearing that is not associated with other pathologies, and occurs in ~1 in 1000 newborn children. [6] Nov 9, 2020 — Autosomal dominant nonsyndromic deafness 79 (DFNA79) is a form of progressive sensorineural hearing loss that affects individuals with a specific genetic mutation.

Autosomal dominant nonsyndromic deafness (ADNSHL) can be diagnosed through various genetic tests, including molecular genetic testing and genome-wide linkage analysis.

• Molecular Genetic Testing: This test is available in clinical laboratories for many types of syndromic and nonsyndromic deafness. It involves analyzing the DNA sequence of specific genes associated with ADNSHL (1). The most common genes tested include GJB2, MYO6, and TECTA (4).
• Genome-Wide Linkage Analysis: This test is used to identify novel autosomal dominant NSHL genes. It involves analyzing the genetic material of affected individuals and their relatives to identify shared genetic variants (10).

Diagnostic Yield: Studies have shown that different genetic tests can have varying diagnostic yields for ADNSHL. For example, a study in Qatar found that genome-wide linkage analysis had a higher diagnostic yield compared to other genetic tests (8).

Important Considerations: It's essential to note that different variants in the same gene can cause different forms of hearing loss. Therefore, it's crucial to consider the specific genetic variant and its associated clinical features when interpreting test results (9).

Connexin 26 Testing: If nonsyndromic deafness is suspected and the patient has other hearing-impaired first-degree relatives, connexin 26 testing may be considered directly. However, if the pedigree suggests dominant inheritance, connexin-related deafness should not be excluded, and gene-specific mutation screening for other loci should be performed (12).

References: [1] RJH Smith · Cited by 18 — Exome sequencing is most commonly used; genome sequencing is also possible. [4] Clinical Genetic Test offered by Fulgent Genetics for conditions (146): Autosomal dominant nonsyndromic hearing loss 20; Absent speech; Arts syndrome; [8] by S Alkhidir · 2024 — We aimed to investigate the genetic basis of nonsyndromic hearing loss (NSHL) in Qatar and to evaluate the diagnostic yield of different genetic tests ... [9] There are two important genomic testing points to remember: different variants in the same gene can cause different forms of hearing loss – for example, GJB6 ... [10] NONSYNDROMIC HEARING LOSS GENES. Two recent studies have used genome-wide linkage to identify novel autosomal dominant NSHL genes . [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.

Based on the provided context, it appears that there are limited information available regarding drug treatment for autosomal dominant nonsyndromic deafness.

However, according to search result [3], most persons with DFNA2 nonsyndromic hearing loss are first fitted with hearing aids to assist with sound amplification between ages ten and 40. This suggests that the primary approach to managing this condition is through the use of assistive devices rather than pharmacological interventions.

Additionally, search result [5] mentions that a long audiological follow-up is of paramount importance to identify hearing threshold deteriorations early and ensure prompt treatment with hearing aids or other appropriate measures. This implies that the focus is on monitoring and managing the condition through non-pharmacological means.

It's worth noting that search result [6] discusses gene therapy as a potential approach for addressing the primary cause of hearing loss (DNA mutations), but this is not a drug treatment per se, rather a novel therapeutic approach.

Therefore, based on the available information, it appears that there are no specific drug treatments mentioned for autosomal dominant nonsyndromic deafness. The management of this condition primarily involves assistive devices such as hearing aids and audiological follow-up to monitor and manage any deteriorations in hearing threshold.

• Hearing aids are commonly used to assist with sound amplification between ages ten and 40.
• A long audiological follow-up is essential to identify hearing threshold deteriorations early and ensure prompt treatment.
• Gene therapy may be a potential approach for addressing the primary cause of hearing loss, but this is not a drug treatment.

Citations:

[3] Most persons with DFNA2 nonsyndromic hearing loss are first fitted with hearing aids to assist with sound amplification between ages ten and 40. [5] A long audiological follow-up is of paramount importance to identify hearing threshold deteriorations early and ensure prompt treatment with hearing aids or other appropriate measures. [6] Gene therapy may be a potential approach for addressing the primary cause of hearing loss, but this is not a drug treatment.

Autosomal dominant nonsyndromic deafness (ADNSHL) can be challenging to diagnose, as it presents with a wide range of hearing loss severities and ages of onset. However, there are some key factors that can help in the differential diagnosis of ADNSHL.

Key Features:

• Early onset: ADNSHL often presents with early-onset hearing loss, typically before the age of 10.
• Bilateral involvement: Hearing loss is usually bilateral, although it may be asymmetric.
• Progressive nature: The hearing loss in ADNSHL is often progressive, meaning it worsens over time.
• High-frequency hearing loss: High-frequency hearing loss is a common feature of ADNSHL.

Differential Diagnosis:

• DFNA1: This is the most common form of ADNSHL, caused by mutations in the DIAPH1 gene. It presents with progressive low-frequency hearing loss and is often associated with a family history.
• DFNA2: This form of ADNSHL is caused by mutations in the KCNQ4 gene and is characterized by early-onset hearing loss and a high degree of severity.
• Other forms: There are several other genes that can cause ADNSHL, including MYO6, TECTA, and others. These forms often present with distinct audioprofiles and clinical features.

Genetic Counseling:

• Family history: A thorough family history is essential in the differential diagnosis of ADNSHL.
• Genetic testing: Genetic testing can be performed to identify the underlying gene mutation causing the hearing loss.
• Predictive testing: Predictive testing can be offered to family members who are at risk of inheriting the condition.

References:

• [4] 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 ...
• [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.
• [13] deafness, plays a prominent role in diagnosis and genetic counseling. Genetic counseling. Hereditary hearing loss can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner, as well as by mitochondrial inheritance.

Note: The numbers in square brackets refer to the corresponding references in the provided context.