autosomal recessive nonsyndromic deafness 65

Autosomal Recessive Nonsyndromic Deafness 65 (ARND65) is a rare genetic disorder that affects hearing.

Causes and Symptoms

ARND65 is caused by mutations in the TECTA gene, which codes for a protein involved in the development of the inner ear. The symptoms of ARND65 include:

• Severe to profound sensorineural hearing loss: This is the most common symptom of ARND65, affecting both ears.
• Hearing impairment: Some individuals may experience mild to moderate hearing loss.

Prevalence and Genetics

ARND65 is a rare disorder, with only a few reported cases in the medical literature. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition.

Diagnosis and Treatment

The diagnosis of ARND65 is typically made through genetic testing, which can identify the TECTA gene mutation. There is no specific treatment for ARND65, but individuals with this condition may benefit from:

• Hearing aids: To improve hearing and communication.
• Cochlear implants: In some cases, cochlear implants may be recommended to restore hearing.

References

1. "Autosomal Recessive Nonsyndromic Deafness 65" by the Online Mendelian Inheritance in Man (OMIM) database [1].
2. A study published in the Journal of Medical Genetics, which reported a case of ARND65 and discussed its genetic and clinical features [2].

Note: The above information is based on search results containing brief descriptions of web pages related to autosomal recessive nonsyndromic deafness 65.

Autosomal recessive nonsyndromic deafness, also known as DFNB, is a type of hearing loss that is not associated with other signs and symptoms. However, based on the search results, here are some common characteristics of autosomal recessive nonsyndromic deafness:

• Early-onset: Autosomal recessive nonsyndromic deafness often presents at birth or in early childhood [1].
• Bilateral hearing loss: The condition typically affects both ears, although it can be asymmetric [6].
• Severe to profound hearing loss: The degree of hearing loss can range from severe to profound, with some individuals experiencing a complete loss of hearing [11].
• Prelingual onset: Autosomal recessive nonsyndromic deafness tends to occur before language development, meaning that affected individuals may not have had the opportunity to develop speech or language skills [14].

It's worth noting that autosomal recessive nonsyndromic deafness is a genetic condition, and its characteristics can vary among different populations. However, in general, it is characterized by early-onset, bilateral, severe to profound hearing loss.

References: [1] - Search result 2 [6] - Search result 6 [11] - Search result 11 [14] - Search result 14

Autosomal Recessive Nonsyndromic Deafness (ARNSD) is a genetic disorder that affects hearing, and diagnostic tests play a crucial role in establishing the diagnosis. Here are some key points about diagnostic tests for ARNSD:

• Genetic testing: Molecular genetic testing is available for many types of syndromic and nonsyndromic deafness, including ARNSD [8]. This test can identify mutations in genes associated with hearing loss, such as GJB2, GJB6, SLC26A4, and OTOF [13].
• GJB2 gene testing: The GJB2 gene is the most common cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations. Genetic testing for GJB2 mutations can be performed to establish a diagnosis of ARNSD [10].
• Other genetic tests: In addition to GJB2, other genes such as GJB6, SLC26A4, and OTOF may also be tested to identify the underlying cause of hearing loss [13].
• Diagnostic yield: The diagnostic yield of different genetic tests for ARNSD can vary depending on the population being studied. For example, a study in Qatar found that genetic testing had a high diagnostic yield for ARNSD [9].

It's worth noting that genetic testing is not always necessary to establish a diagnosis of ARNSD. A clinical diagnosis can be made based on suggestive findings and family history.

References:

[8] Smith RJH, et al. Diagnosis/testing. Molecular genetic testing plays a crucial role in the diagnosis of syndromic and nonsyndromic deafness.

[9] Alkhidir S, et al. Investigation of the genetic basis of nonsyndromic hearing loss (NSHL) in Qatar and evaluation of the diagnostic yield of different genetic tests.

[10] GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations.

[13] STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2.

Autosomal recessive nonsyndromic deafness, also known as DFNB type, accounts for approximately 85% of cases of non-syndromic hearing loss. As of my knowledge cutoff in 2024, there is no specific drug treatment available for autosomal recessive nonsyndromic deafness.

However, researchers are exploring various gene therapy approaches to treat this condition. For example, a study published in 2023 demonstrated the effectiveness of AAV1-hOTOF gene therapy in treating hereditary deafness [5]. Another study from 2024 discussed the potential of gene therapy based on adeno-associated viruses (AAVs) for the treatment of hereditary deafness [7].

Currently, the primary treatments for autosomal recessive nonsyndromic deafness are cochlear implants or hearing aids. These devices can significantly improve communication and quality of life for individuals with this condition.

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual circumstances [9].

References: [5] Jiang, L., et al. (2023). Gene therapy for hereditary hearing loss: A review of current progress. [7] Brotto, D. (2024). Gene therapy for hereditary deafness using adeno-associated viruses. [9] Disease Overview. Any autosomal recessive nonsyndromic deafness in ...

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, and a differential diagnosis is often necessary to rule out other conditions that may present with similar symptoms. Here are some key points to consider:

• Genetic testing: Genetic testing for mutations in the GJB2 gene, which is responsible for approximately 50% of cases of ARNSHL, can be used to confirm the diagnosis (1).
• Other genetic causes: Other genetic causes of ARNSHL include mutations in the OTOF gene, which accounts for around 10-15% of cases (3). Genetic testing for these and other genes may also be necessary.
• Environmental factors: Environmental factors such as exposure to certain toxins or infections during pregnancy can also contribute to ARNSHL. A thorough medical history is essential to rule out these potential causes (4).
• Other conditions with similar symptoms: Other conditions that may present with similar symptoms of hearing loss, including congenital or prelingual deafness, include:
  • Autosomal dominant nonsyndromic deafness
  • X-linked recessive nonsyndromic deafness
  • Syndromic hearing loss (e.g. Usher syndrome)
• Imaging studies: Imaging studies such as MRI or CT scans may be necessary to rule out inner-ear anomalies that can cause hearing loss (3).

It's essential to consult with a geneticist, audiologist, and/or an ear, nose, and throat (ENT) specialist to determine the best course of action for differential diagnosis.

References: (1) [1] (3) [3] (4) [4]