autosomal dominant nonsyndromic deafness

Autosomal dominant non-syndromic 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 sufficient to cause the condition. This type of hearing loss typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype.

Characteristics:

• Postlingual onset: Hearing loss often begins after language development has taken place, usually in the second decade of life.
• Flat progressive hearing loss: The hearing loss tends to be gradual and flat, rather than sudden or fluctuating.
• High frequency hearing loss: Autosomal dominant non-syndromic deafness often affects high-frequency sounds more than low-frequency sounds.

Genetic causes:

• Multiple genes are associated with autosomal dominant non-syndromic deafness, including DFNA1, DFNA20/26, and others.
• The ACTG1 gene on chromosome 17q25 is a known cause of this condition (DFNA20/26) [6].

Prevalence:

• Nonsyndromic deafness constitutes 75% of all

Autosomal dominant nonsyndromic deafness refers to a type of hearing loss that occurs due to genetic mutations, which are inherited in an autosomal dominant manner. This means that a single copy of the mutated gene is enough to cause the condition.

Characteristics of Autosomal Dominant Nonsyndromic Deafness:

• Early Onset: Autosomal dominant nonsyndromic deafness often manifests very early in life, sometimes even at birth [1].
• Bilateral Hearing Loss: The hearing loss is typically bilateral, meaning it affects both ears [1].
• Variable Severity: The severity of the hearing loss can range from mild to profound [1].

Other Possible Signs and Symptoms:

While autosomal dominant nonsyndromic deafness is not associated with other clinical manifestations in most cases, some individuals may experience additional signs or symptoms due to the underlying genetic mutation. These can include:

• Other Auditory Issues: Some people with autosomal dominant nonsyndromic deafness may experience tinnitus (ringing in the ears), ear fullness, or other auditory problems [2].
• Genetic Syndromes: In rare cases, autosomal dominant nonsyndromic deafness can be associated with genetic syndromes that involve multiple symptoms beyond hearing loss [3].

Prevalence and Diagnosis:

Autosomal dominant nonsyndromic deafness accounts for approximately 19% of all cases of inherited hearing loss [4]. The condition is typically diagnosed between the ages of 5 and 15, initially affecting high frequencies with later involvement of middle and high frequencies [2].

References:

[1] Context result 1 [2] Context result 5 [3] Context result 6 [4] Context result 3

Autosomal dominant nonsyndromic deafness is a form 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. Diagnostic tests for this type of deafness are designed to identify the specific genetic mutation responsible for the hearing loss.

Multigene Hearing Loss Panel A multigene hearing loss panel can often identify the cause of genetic hearing loss while limiting identification of variants of uncertain significance (VUS) [5]. This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 200 genes associated with hereditary hearing loss.

Clinical Genetic Test A clinical genetic test, such as the one offered by Fulgent Genetics, can be used to diagnose autosomal dominant nonsyndromic deafness. This test is ideal for patients with a clinical suspicion of unilateral or bilateral non-syndromic hearing loss [2].

Genetic Testing Molecular genetic testing plays a crucial role in diagnosing autosomal dominant nonsyndromic deafness. Genetic testing can identify mutations in genes such as GJB2, GJB6, SLC26A4, and OTOF, which are common causes of hearing loss [14].

Diagnostic Yield Studies have shown that genetic tests can have a high diagnostic yield for autosomal dominant nonsyndromic deafness. For example, a study in Qatar found that genetic testing had a diagnostic yield of 73% for this condition [8].

Next-Generation Sequencing Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations responsible for hearing loss. NGS can detect single nucleotide and copy number variants in multiple genes associated with hereditary hearing loss.

In summary, diagnostic tests for autosomal dominant nonsyndromic deafness include multigene hearing loss panels, clinical genetic tests, genetic testing, and next-generation sequencing. These tests can help identify the specific genetic mutation responsible for the hearing loss and provide a diagnosis for patients with this condition.

References: [2] Fulgent Genetics. Clinical Genetic Test. [5] Sep 28, 2023 — A multigene hearing loss panel can often identify the cause of genetic hearing loss while limiting identification of variants of uncertain ... [8] by S Alkhidir · 2024 — We aimed to investigate the diagnostic yield of genetic testing for autosomal dominant nonsyndromic deafness in a cohort of patients from Qatar. [14] In diagnostic tests, genes that are common causes of hearing loss, such as GJB2, GJB6, SLC26A4, and OTOF, ...

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. While there are no specific drug treatments for this condition, researchers have been exploring various therapeutic approaches.

According to search results [4], nonsyndromic deafness constitutes 75% of all hearing loss cases, and an estimated 100 genes are thought to be linked to this condition. About 80% are linked to autosomal recessive inheritance, 15% to autosomal dominant inheritance, 1-3% through the X chromosome, and 0.5-1% are associated with mitochondrial inheritance.

Regarding drug treatment for autosomal dominant nonsyndromic deafness, there is limited information available. However, researchers have been investigating gene therapy as a potential treatment approach [13]. Gene replacement, a dominant strategy in clinical studies, provides sufficiently functional protein by delivering exogenous genes, and this method is suitable for the treatment of recessive genetic diseases and dominant genetic diseases that have insufficient single allele dosage.

For example, an interim analysis of a single-arm trial in 5 children with hereditary deafness shows that binaural AAV gene therapy is safe and leads to hearing improvement up to 13–26 weeks of follow-up [13]. This suggests that gene therapy may be a promising approach for treating autosomal dominant nonsyndromic deafness.

However, it's essential to note that more research is needed to fully understand the potential benefits and limitations of drug treatment for autosomal dominant nonsyndromic deafness.

Understanding Autosomal Dominant Nonsyndromic Deafness

Autosomal dominant nonsyndromic deafness is a type of hearing loss that can be inherited in an autosomal dominant pattern. This means that only one copy of the mutated gene is sufficient to express the phenotype, and affected individuals have a 50% chance of passing the condition on to each of their children [1][7].

Differential Diagnosis

The differential diagnosis for autosomal dominant nonsyndromic deafness involves considering other possible causes of hearing loss. These include:

• Other genetic mutations: Mutations in at least 30 genes have been identified in people with autosomal dominant nonsyndromic deafness [1][6].
• Environmental factors: Exposure to loud noises, infections, or certain medications can also cause hearing loss.
• Other medical conditions: Certain medical conditions, such as Meniere's disease or otosclerosis, can also affect hearing.

Key Features

Autosomal dominant nonsyndromic deafness is characterized by:

• Symmetric hearing loss: Hearing loss typically affects both ears equally [3].
• Predominantly high-frequency sensorineural hearing loss: The condition often presents with high-frequency hearing loss, which can progress to involve all frequencies [3].
• Progressive hearing loss: Hearing loss in autosomal dominant nonsyndromic deafness is typically progressive, meaning it worsens over time.

Genetic Testing

Genetic testing can be used to confirm the diagnosis of autosomal dominant nonsyndromic deafness. This involves analyzing DNA samples from affected individuals and their family members to identify mutations in specific genes [2][4].

References:

[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] by M Aldè · 2023 · Cited by 30 — Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype ...

[3] by RJH Smith · 2018 · Cited by 17 — DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all ...

[4] by M Aldè · 2023 · Cited by 30 — Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype ...