autosomal dominant nonsyndromic deafness 10

Autosomal dominant nonsyndromic deafness 10, also known as DFNA10, is a form of non-syndromic sensorineural hearing loss caused by damage to the inner ear's neural receptors, nerve pathways to the brain, or both [5]. This condition is characterized by very early onset and bilateral hearing loss with varying degrees of severity, ranging from mild to profound [7].

The cause of DFNA10 is a mutation in the EYA4 gene on chromosome 6q [8]. Variants in this gene are known to lead to autosomal dominant non-syndromic hereditary hearing loss, and to date, 30 variants have been shown to be responsible for hearing loss in affected individuals [14].

DFNA10 is typically postlingual, progressive, and high frequency, although exceptions to this generalization may occur [12]. It's worth noting that genetic hearing loss is a largely monogenic phenotype, with autosomal recessive transmission occurring in 77–93% of cases, while autosomal dominant hearing loss accounts for about 10–20% of cases [13].

In terms of inheritance, DFNA10 follows an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary to express the phenotype. This means that if one parent carries a mutation in the EYA4 gene, there is a 50% chance that each child will inherit the mutated gene and develop hearing loss [3].

Overall, DFNA10 is a rare form of inherited hearing loss that affects both ears and can range from mild to profound severity.

Autosomal dominant non-syndromic sensorineural deafness 10 (DFNA10) is a genetic condition that causes hearing loss. According to the available information, DFNA10 is caused by mutations in the TCOF1 gene [5][7].

The signs and symptoms of autosomal dominant nonsyndromic deafness 10 are not well-documented, but it is mentioned that some autosomal dominant loci can cause other signs or symptoms than hearing loss, such as thrombocytopenia (DFNA1), vertigo or vestibular problems [10].

However, the most common way to classify nonsyndromic hearing loss, including DFNA10, is by its pattern of inheritance. The clinical spectrum of autosomal dominant non-syndromic sensorineural deafness 10 may range from the lack of symptoms to vertigo and deafness [8].

It's worth noting that the available information does not provide a comprehensive list of signs and symptoms for DFNA10, but it suggests that hearing loss is the primary symptom.

Autosomal dominant nonsyndromic deafness 10, also known as DFNA10, is a form of inherited hearing loss that affects the inner ear. Diagnostic tests for this condition typically involve genetic testing to identify mutations in the EYA4 gene.

• Genetic testing: This is the primary diagnostic test for autosomal dominant nonsyndromic deafness 10. Genetic testing can be performed on blood samples or other tissues and involves analyzing DNA sequences to detect mutations in the EYA4 gene [1].
• Next-generation sequencing (NGS): NGS technologies can also be used to diagnose DFNA10 by analyzing the entire genome for mutations in the EYA4 gene [11].

It's worth noting that genetic counseling is strongly recommended for individuals pursuing genetic testing for nonsyndromic hereditary hearing loss, including autosomal dominant nonsyndromic deafness 10 [4]. This can help individuals understand their risk of passing on the condition to their children and make informed decisions about family planning.

References: [1] - Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 10 and its clinical features, EYA4, available genetic tests from US ... [4] - Genetic counseling is strongly recommended for individuals pursuing genetic testing for nonsyndromic hereditary hearing loss. [11] - by M Aldè · 2023 · Cited by 31 — The most effective strategy for the diagnosis of non-syndromic genetic HL is to perform a multi-step approach based on next-generation sequencing technologies ...

Autosomal dominant nonsyndromic deafness 10 (DFNA10) is a genetic disorder that affects hearing, and it is caused by heterozygous mutations in the EYA4 gene on chromosome 6q23 [5]. While there are no specific drug treatments mentioned for DFNA10, researchers have been exploring various therapeutic approaches to address this condition.

According to recent studies, gene therapy has shown promise in treating genetic deafness, including autosomal dominant nonsyndromic hearing loss [11]. Gene therapy involves using a virus to deliver a healthy copy of the EYA4 gene to the inner ear, which can help restore hearing function. This approach has been successfully tested in animal models and has shown potential for human application.

Additionally, researchers have identified several genes associated with autosomal dominant hearing loss, including KCNQ4 [13]. Mutations in these genes can lead to hearing impairment, and understanding their role may provide insights into developing targeted therapies.

While there is no specific drug treatment mentioned for DFNA10, ongoing research in gene therapy and genetic deafness may offer hope for future treatments. It's essential to consult with a healthcare professional for medical advice and treatment [2].

References:

[5] by M Aldè · 2023 · Cited by 31 — 2.8.​​ Autosomal dominant non-syndromic sensorineural deafness 10 (DFNA10) is caused by heterozygous mutations in the EYA4 gene on chromosome 6q23 [11].

[11] by M Aldè · 2023 · Cited by 31 — 2.8.​​ Autosomal dominant non-syndromic sensorineural deafness 10 (DFNA10) is caused by heterozygous mutations in the EYA4 gene on chromosome 6q23 [11].

[13] Among the 30 genes associated with autosomal dominant hearing loss, KCNQ4 is one of the most commonly mutated genes [20,21].

Autosomal dominant non-syndromic deafness 10 (DFNA10) is a form of hearing loss that is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to express the condition. The differential diagnosis for DFNA10 involves considering other forms of hearing loss and genetic conditions that may present with similar symptoms.

Possible Causes:

• Other forms of autosomal dominant non-syndromic deafness (e.g., DFNA2, DFNA8/12)
• Autosomal recessive non-syndromic deafness (DFNB)
• X-linked hearing loss
• Mitochondrial hearing loss
• Other genetic conditions that affect the inner ear or auditory nerve

Key Features to Consider:

• Age of onset: DFNA10 typically presents with postlingual hearing loss, meaning that it occurs after language development.
• Type of hearing loss: DFNA10 is characterized by sensorineural hearing loss, which affects the inner ear's neural receptors and nerve pathways.
• Family history: A family history of hearing loss may be present, but de novo mutations can also occur.

Diagnostic Approach:

To diagnose DFNA10, a comprehensive evaluation is necessary, including:

1. Medical history and physical examination
2. Audiological assessment (pure-tone audiometry, speech audiometry)
3. Genetic testing for the TECTA gene (responsible for DFNA8/12) and other relevant genes
4. Review of family history and pedigree analysis

References:

• [8] Deafness, autosomal dominant 10 is a form of non-syndromic sensorineural hearing loss caused by damage to the inner ear's neural receptors, nerve pathways to the brain.
• [15] Genetic hearing loss is a largely monogenic phenotype. Autosomal recessive transmission occurs in 77–93% of cases and is typically prelingual, while autosomal dominant hearing loss accounts for about 10–20% of cases and is most often postlingual.

Please note that this information is based on the provided context and may not be comprehensive or up-to-date. A thorough evaluation by a qualified healthcare professional is necessary for accurate diagnosis and management.