autosomal recessive nonsyndromic deafness 25

Autosomal Recessive Nonsyndromic Deafness 25, also known as DFNB25, is a form of non-syndromic sensorineural hearing loss. It is characterized by moderate to severe or profound hearing loss which can be progressive in some individuals.

• Prelingual onset: The hearing loss typically begins before the age of 2-3 years [1].
• Progressive hearing loss: In some cases, the hearing loss may worsen over time [4].
• Moderate to profound hearing loss: Individuals with DFNB25 often experience significant difficulty with speech and communication due to their hearing impairment [6][7].

DFNB25 is caused by mutations in the SLC17A8 gene on chromosome 12q23. It is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene is necessary for the condition to manifest.

• Inheritance pattern: DFNB25 follows an autosomal dominant inheritance pattern, where a single copy of the mutated gene is sufficient to cause the condition [5][9].

It's worth noting that carriers of the mutated SLC17A8 gene do not typically experience hearing loss themselves. However, they can pass the mutated gene to their offspring, who may develop DFNB25.

• Carriers: Individuals with one copy of the mutated SLC17A8 gene are usually asymptomatic but can be carriers of the condition [9].

References: [1] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [9] - Context result 9

Autosomal recessive nonsyndromic deafness (ARNSHL) is a type of hearing loss that is not associated with any other signs or symptoms, except for the lack of hearing. The clinical spectrum of ARNSHL can range from mild to severe, and in some cases, it may be accompanied by vertigo.

• Mild to moderate hearing loss: This is the most common presentation of ARNSHL, where individuals have a partial or total loss of hearing that is not associated with any other symptoms. [4]
• Prelingual deafness: In some cases, ARNSHL can occur before language development, resulting in a lack of speech and communication skills. [8]
• Sensorineural hearing loss: This type of hearing loss affects the inner ear and is characterized by a reduction in sound sensitivity. [3]

It's worth noting that individuals with autosomal recessive nonsyndromic deafness may not exhibit any other signs or symptoms, except for the lack of hearing. The diagnosis of ARNSHL should be considered when an individual presents with abnormal hearing loss without any other associated symptoms.

References: [3] - Context 3 [4] - Context 4 [8] - Context 8

Autosomal Recessive Nonsyndromic Deafness (ARNSD) 25, also known as Deafness, Autosomal Recessive 25, is a form of non-syndromic sensorineural deafness characterized by moderate to severe or profound hearing loss. Diagnostic tests for ARNSD 25 are crucial in identifying the genetic cause of this condition.

Available Tests

There are several diagnostic tests available for ARNSD 25, including:

• Clinical Molecular Genetics test: This test is ideal for patients with a clinical suspicion of unilateral or bilateral non-syndromic hearing loss. It includes mitochondrial genome sequencing and analysis (Source: [4])
• Deletion/duplication analysis using Next-Generation Sequencing (NGS): This test can identify deletions or duplications in the GJB2 gene, which is associated with ARNSD 25 (Source: [3])

Genetic Testing

Genetic testing plays a significant role in diagnosing ARNSD 25. The GJB2 gene is responsible for half of all autosomal recessive nonsyndromic deafness cases (Source: [8]). Mutations in the GJB6 gene also contribute to this condition.

• Molecular genetic testing can identify mutations in the GJB2 and GJB6 genes, which account for more than 50% of ARNSD 25 cases (Source: [9])
• Genetic counseling is essential in conjunction with diagnostic testing to provide patients and their families with accurate information about their condition

Other Diagnostic Tests

While not directly related to ARNSD 25, other diagnostic tests may be used to rule out syndromic causes of hearing loss. These include:

• ICD-9 codes for diagnostic procedures on the tongue (Source: [10])
• GJB2-related autosomal recessive nonsyndromic hearing loss diagnosis/testing (Source: [11])

Prevalence and Genetic Etiology

ARNSD 25 is a common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations. Over the past 25 years, advancements in technology have revealed genetic etiology for HL occurrences in prelingual children (Source: [12])

Conclusion

Diagnostic tests for ARNSD 25 are essential in identifying the genetic cause of this condition. Clinical Molecular Genetics testing and deletion/duplication analysis using NGS can help diagnose ARNSD 25, particularly when associated with GJB2 gene mutations. Genetic counseling is also crucial in conjunction with diagnostic testing to provide patients and their families with accurate information about their condition.

Autosomal recessive nonsyndromic deafness, also known as non-syndromic hearing loss (NSHL), is a type of hearing impairment that is inherited in an autosomal recessive pattern. While there are no specific drug treatments for this condition, researchers have been exploring various therapeutic approaches to manage and potentially treat NSHL.

Current Treatment Options

According to the search results, current clinical treatments for NSHL include:

• Cochlear implants: These devices can bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing individuals with severe hearing loss to perceive sound [5].
• Hearing aids: These devices amplify sound to help individuals with mild to moderate hearing loss better hear and communicate [6].

Emerging Therapies

Gene therapy is a promising approach for treating hereditary deafness, including autosomal recessive nonsyndromic deafness. Researchers have shown that gene therapy can be effective in restoring hearing function in animal models [2]. Additionally, gene therapy based on adeno-associated viruses (AAVs) is rapidly becoming a new method for the treatment of hereditary deafness, but more research is needed to make it clinically effective [7].

Other Therapeutic Approaches

Researchers have also been exploring other therapeutic approaches, such as:

• Gene editing technologies: These technologies can be used to correct genetic mutations that cause NSHL. However, these technologies are still in the early stages of development and require further research before they can be considered for clinical use [5].
• Stem cell therapies: Researchers have shown that stem cells can differentiate into auditory nerve cells and potentially restore hearing function in individuals with NSHL [8].

Consult a Healthcare Professional

It's essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on individual circumstances and help determine the best course of action.

References:

[2] Wang, H., et al. (2024). Gene therapy is a promising approach for hereditary deafness. [Context result 2]

[5] Jiang, L., et al. (2023). To date, more than 150 deafness genes have been recognized to be associated with HHL. [Context result 5]

[6] [Context result 6]

[7] Brotto, D. (2024). Gene therapy based on AAVs is rapidly becoming a new method for the treatment of hereditary deafness, but the road to complete and effective clinical application is long. [Context result 7]

[8] [Context result 8]

Autosomal recessive nonsyndromic deafness 25 (DFNA25) is a genetic disorder that affects hearing. To determine the differential diagnosis for this condition, we need to consider other possible causes of hearing loss that may present similarly.

• Other forms of autosomal dominant hearing loss: Conditions such as DFNA20/26, caused by mutations in the ACTG1 gene, can also lead to hearing loss. These conditions are inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the condition [9].
• Autosomal recessive hearing loss: Other forms of autosomal recessive hearing loss, such as DFNB, can also present with similar symptoms. These conditions are caused by mutations in genes involved in the development and function of the inner ear [7].
• Sensory neural hearing loss: Conditions that affect the sensory neurons responsible for transmitting sound signals to the brain can also lead to hearing loss. This includes conditions such as DFNA25, which is caused by defective SLC17A8 gene [10].

It's worth noting that a definitive diagnosis of autosomal recessive nonsyndromic deafness 25 (DFNA25) typically requires genetic testing and analysis.

References: [7] - Page 7 of 25. Deafness and ... [9] - by M Aldè · 2023 · Cited by 31 — Autosomal dominant non-syndromic sensorineural deafness 20/26 (DFNA20/26) is caused by heterozygous mutations in the ACTG1 gene on chromosome 17q25 [11]. [10] - Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) ; 22841313, Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene ...