autosomal dominant nonsyndromic deafness 25

Autosomal dominant nonsyndromic deafness 25, also known as DFNA25, is a form of non-syndromic sensorineural hearing loss caused by mutations in the SLC17A8 gene on chromosome 12q23.1 [1]. This condition is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss [7].

The hearing loss associated with DFNA25 can range from moderate to severe or profound, and may be progressive in some individuals but not others [9]. It's essential to note that this form of deafness is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the condition [10].

According to available information, DFNA25 accounts for a small percentage of autosomal dominant non-syndromic hearing loss cases. However, it's worth mentioning that nonsyndromic deafness constitutes 75% of all hearing loss cases, with an estimated 100 genes linked to this condition [11].

Autosomal dominant nonsyndromic deafness 25, also known as DFNA5, is a genetic disorder that affects the hearing ability of individuals. The diagnostic tests for this condition are crucial in confirming the presence of the disease and ruling out other possible causes of hearing loss.

Diagnostic Tests:

• Molecular genetic testing: This test involves analyzing the SLC17A8 gene to identify any mutations that may be causing the deafness. [7]
• Next-generation sequencing technologies: These advanced sequencing techniques can help identify the specific mutation in the SLC17A8 gene responsible for DFNA5. [8]

Clinical Evaluation:

• A comprehensive diagnostic evaluation by a team of experts, including geneticists and audiologists, is essential to establish a diagnosis of autosomal dominant nonsyndromic deafness 25. [9]
• This evaluation may involve a thorough medical history, physical examination, and auditory testing to confirm the presence of hearing loss.

Genetic Testing:

• Genetic testing can be performed on family members who are suspected to carry the mutated SLC17A8 gene. [7]

It's worth noting that a diagnosis of autosomal dominant nonsyndromic deafness 25 requires a combination of clinical evaluation and genetic testing. A comprehensive diagnostic approach is essential to confirm the presence of this condition and rule out other possible causes of hearing loss.

References: [7] Smith RJH, Cited by 240 - Diagnosis/testing. Molecular genetic testing plays a crucial role in diagnosing syndromic and nonsyndromic deafness. [8] Aldè M, 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. [9] Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss ... Deafness, autosomal dominant.

Based on the provided context, it appears that there are limited treatment options available for autosomal dominant nonsyndromic deafness 25 (DFNA25). However, I can provide some information on the current understanding of this condition and potential future directions.

Current Understanding

Autosomal dominant nonsyndromic deafness 25 (DFNA25) is a rare genetic disorder characterized by progressive sensorineural hearing loss at high frequencies. The condition is caused by mutations in the SLC17A8 gene, which codes for a transporter protein involved in the regulation of pH and ion balance within the inner ear.

Treatment Options

Unfortunately, there are no established drug treatments specifically targeting DFNA25. However, researchers have explored various therapeutic strategies to address hearing loss associated with this condition.

• Gene therapy: Some studies have investigated gene replacement or suppression therapies as potential approaches for treating autosomal dominant nonsyndromic deafness 25 (e.g., [8], [9]). These strategies aim to correct the underlying genetic defect responsible for the hearing loss.
• Cochlear implants: As mentioned in search result [5], cochlear implants can be an effective treatment option for individuals with severe or profound hearing loss, including those with DFNA25.

Future Directions

While there are no established drug treatments for autosomal dominant nonsyndromic deafness 25, researchers continue to explore new therapeutic approaches. For example:

• Gene therapy: Further research is needed to develop effective gene replacement or suppression therapies for treating DFNA25 (e.g., [8], [9]).
• Small molecule therapeutics: Scientists are investigating the potential of small molecules to target specific pathways involved in hearing loss, such as those related to ion balance and pH regulation within the inner ear.

In summary, while there are no established drug treatments specifically targeting autosomal dominant nonsyndromic deafness 25 (DFNA25), researchers continue to explore new therapeutic approaches, including gene therapy and small molecule therapeutics.

Autosomal dominant nonsyndromic deafness 25 (DFNA25) is a genetic disorder that affects hearing. The differential diagnosis for DFNA25 involves ruling out other conditions that may cause similar symptoms.

Conditions to Consider:

• Other forms of autosomal dominant nonsyndromic deafness: There are several types of autosomal dominant nonsyndromic deafness, including DFNA1, DFNA2, and DFNA3. These conditions have similar genetic causes but may present with different symptoms or severity.
• Autosomal recessive non-syndromic hearing loss: This condition is caused by mutations in genes that are not inherited in an autosomal dominant manner. It typically affects both ears equally and can be more severe than DFNA25.
• Sensory neural hearing loss: This is a broader category of hearing loss that includes conditions such as cochlear dysfunction, auditory neuropathy, and retrocochlear lesions. These conditions may present with similar symptoms to DFNA25 but have different underlying causes.

Key Features to Consider:

• Family history: A family history of hearing loss or deafness is a key feature of autosomal dominant nonsyndromic deafness 25.
• Age of onset: The age at which hearing loss begins can help differentiate between conditions. DFNA25 typically presents with early-onset hearing loss, often in childhood or adolescence.
• Type of hearing loss: DFNA25 is characterized by sensorineural hearing loss, which affects the inner ear.

Diagnostic Tests:

• Genetic testing: Genetic testing for mutations in the SLC17A8 gene can confirm a diagnosis of DFNA25.
• Auditory and vestibular function tests: These tests can assess the severity and type of hearing loss.
• Imaging studies: Imaging studies such as MRI or CT scans may be used to rule out other conditions that could cause similar symptoms.

References:

• [6] by M Aldè · 2023 · Cited by 30 — Autosomal dominant non-syndromic sensorineural deafness 20/26 (DFNA20/26) is caused by heterozygous mutations in the ACTG1 gene on chromosome 17q25 [11].
• [12] Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25); 22841313, Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene ...
• [14] Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 1 and its clinical features, DIAPH1, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, ...