autosomal recessive nonsyndromic deafness 6

Autosomal Recessive Nonsyndromic Deafness 6 (DFNB6) is a form of non-syndromic sensorineural hearing loss caused by damage to the neural receptors of the inner ear, nerve pathways, and/or the auditory nerve. This condition 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.

Characteristics:

• Sensorineural hearing loss: DFNB6 affects the inner ear's ability to convert sound vibrations into electrical signals that are transmitted to the brain.
• Bilateral involvement: Hearing loss typically occurs in both ears, although the severity may vary between them.
• Prelingual onset: The condition often manifests before a person begins speaking (prelingually), but it can also occur later in life.

Inheritance pattern:

• Autosomal recessive: DFNB6 is inherited from carriers who have one copy of the mutated gene. Carriers are usually asymptomatic, but they can pass the mutated gene to their offspring.
• Genetic mutation: The condition is caused by a specific genetic mutation that affects the function of the inner ear.

References:

• [5] Deafness, autosomal recessive 6 is a form of non-syndromic sensorineural hearing loss caused by damage to the neural receptors of the inner ear, nerve pathways ...
• [10] Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... DFNB: nonsyndromic deafness, autosomal recessive ... 6 References

Autosomal recessive nonsyndromic deafness, also known as autosomal recessive hearing loss (ARNSHL), is a type of hearing loss that is not associated with other signs and symptoms. The clinical spectrum of ARNSHL may range from the lack of symptoms to vertigo and deafness.

Common Signs and Symptoms:

• Prelingual deafness: Manifestation before speech development, which means that individuals with autosomal recessive nonsyndromic deafness often lose their hearing before they learn to speak.
• Bilateral hearing loss: Hearing loss affects both ears, and the degree of severity can range from mild to profound.

Other Possible Symptoms:

• Vertigo (a feeling of spinning or dizziness)
• Deafness

It's worth noting that autosomal recessive nonsyndromic deafness is a relatively common cause of hearing loss, accounting for approximately 80% of non-syndromic cases [10]. The most common genes associated with ARNSHL are not specified in the provided context.

References: [6] by MD Venkatesh · 2015 · Cited by 48 — [10] by Y Feng · 2023 · Cited by 1

Based on the provided context, diagnostic tests for autosomal recessive nonsyndromic deafness include:

• Targeted variant analysis [4]
• Sequence analysis of the entire coding region [4]
• Deletion/duplication analysis [4]

These tests are used to identify genetic mutations associated with hereditary hearing loss, which may be caused by autosomal dominant, autosomal recessive, X-linked, or mitochondrial inheritance patterns [5].

Genetic testing can provide accurate determination of the etiology of the patient's hearing loss [6]. Molecular genetic testing has been shown to play a significant role in diagnosing syndromic and nonsyndromic deafness [7].

In particular, diagnostic testing for DFNB1-associated hearing impairment is technically simple compared with many other diagnostic tests and has a high sensitivity [8]. Recent progress in identifying genes responsible for hearing loss enables clinicians to apply molecular diagnosis by genetic testing [9].

The most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss is GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) [10]. The diagnosis of GJB2-AR NSHL is established in a proband with suggestive findings and confirmed by genetic testing.

Overall, diagnostic tests for autosomal recessive nonsyndromic deafness aim to identify the underlying genetic cause of hearing loss, which can inform treatment and management decisions.

Unfortunately, there are no biological therapies currently available for treating autosomal recessive nonsyndromic deafness.

According to search result [6], "Current therapies for hearing loss are hearing aids or cochlear implants. No biological therapies exist." This means that treatment for this condition is primarily focused on managing symptoms and improving communication through the use of assistive devices like hearing aids or cochlear implants, rather than addressing the underlying genetic cause.

However, researchers are exploring gene therapy as a potential treatment option for autosomal recessive nonsyndromic deafness. For example, search result [3] mentions that "gene therapy is a promising approach for hereditary deafness" and notes that AAV1-hOTOF gene therapy has shown promise in treating children with autosomal recessive deafness (search result [8]).

Based on the context you provided, here are some potential differential diagnoses for autosomal recessive nonsyndromic deafness:

1. Genetic testing: Consider genetic testing to identify the specific gene mutation responsible for the hearing loss. This can help confirm the diagnosis and provide a more accurate prognosis.
2. Other forms of hearing loss: Rule out other forms of hearing loss, such as:
   • Autosomal dominant nonsyndromic deafness (DFNA): caused by mutations in genes like DIAPH1 or MYO15A
   • Sensory neural hearing loss: caused by damage to the inner ear or auditory nerve
   • Mixed hearing loss: a combination of conductive and sensory neural hearing loss
3. Syndromic hearing loss: Consider syndromic hearing loss, which is associated with other physical or developmental abnormalities. Examples include:
   • Usher syndrome: an autosomal recessive disorder that causes progressive vision and hearing loss
   • Jervell and Lange-Nielsen syndrome: a rare autosomal recessive disorder that causes congenital deafness and cardiac arrhythmias
4. Other genetic disorders: Consider other genetic disorders that can cause hearing loss, such as:
   • Cochlear abnormalities: caused by mutations in genes like GJB2 or SLC26A4
   • Auditory neuropathy: caused by damage to the auditory nerve

It's essential to consult with a geneticist or an audiologist to determine the most likely cause of autosomal recessive nonsyndromic deafness and develop an appropriate treatment plan.