autosomal recessive nonsyndromic deafness 106

Autosomal recessive nonsyndromic deafness 106, also known as DFNB106, is a type of non-syndromic sensorineural hearing loss.

• This condition is characterized by damage to the neural receptors in the inner ear [2].
• It is an autosomal recessive disorder, meaning that it is inherited in an autosomal recessive pattern and affects both males and females equally [4][8].
• The condition is caused by a homozygous mutation in the EPS8L2 gene on chromosome 11p15 [4].
• Mutations in human and/or mouse homologs are associated with this disease [5][7].

It's worth noting that autosomal recessive nonsyndromic deafness 106 is a rare condition, and more research is needed to fully understand its causes and effects. If you're looking for more information on this topic, I'd be happy to help!

Autosomal recessive nonsyndromic deafness 106 (DFNB106) is a genetic disorder that affects hearing. The signs and symptoms of this condition are as follows:

• Prelingual onset: Individuals with DFNB106 typically experience severe, prelingual deafness involving all frequencies [6].
• Severe to profound hearing loss: This condition is characterized by stable, severe to profound hearing loss before language acquisition [8][9].
• Stable hearing loss: The hearing loss associated with DFNB106 is generally non-progressive (stable) and does not worsen over time [7][9].
• Prelingual deafness: As the name suggests, this condition leads to prelingual deafness, meaning that individuals are born with or develop severe hearing impairment before they acquire language skills.

It's worth noting that DFNB106 is caused by a homozygous mutation in the EPS8L2 gene [5]. This genetic mutation affects the development of the inner ear and leads to the characteristic signs and symptoms of this condition.

Autosomal recessive nonsyndromic deafness (ARNSHL) can be diagnosed through various diagnostic tests. Here are some of the common tests used to diagnose ARNSHL:

• Newborn Screening: This test detects moderate to profound hearing loss in newborns, but may miss mild hearing loss [8].
• Routine Hearing Screening: This test is typically performed within the school system or by an audiologist to detect hearing loss.
• Genetic Testing: Genetic testing can be used to identify mutations in genes such as GJB2, GJB3, and GJB6 that are associated with ARNSHL [3].
• Gene Panel Testing: A 138 gene panel is available that includes assessment of non-coding variants, as well as the maternally inherited mitochondrial genome [4].
• Targeted Familial Testing: This test involves testing family members who have a known history of hearing loss to identify carriers of mutations associated with ARNSHL [9].

It's worth noting that the diagnostic yield for targeted familial testing was 60% (n = 3 patients) and for gene panel was 50% (n = 5), suggesting that these tests can be effective in diagnosing ARNSHL [9].

Current Therapies for Autosomal Recessive Nonsyndromic Deafness

Unfortunately, there is no specific drug treatment available for autosomal recessive nonsyndromic deafness. The current therapies for hearing loss in general are:

• Hearing aids: These can be used to amplify sound and improve communication.
• Cochlear implants: These are medical devices that bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing individuals to perceive sound.

According to search result [8], "Current therapies for hearing loss are hearing aids or cochlear implants. No biological therapies exist."

It's worth noting that research is ongoing to explore gene therapies as a potential treatment option for certain types of genetic hearing loss, including autosomal recessive nonsyndromic deafness (see search results [2] and [5]). However, these treatments are still in the experimental stages and not yet widely available.

Treatment Options

In most cases, treatment for autosomal recessive nonsyndromic deafness is focused on managing symptoms and improving communication. This may include:

• Hearing aids or cochlear implants to improve hearing
• Speech therapy to improve communication skills
• Counseling to address emotional and psychological impacts of hearing loss

It's essential to consult with a healthcare professional for personalized advice and treatment options.

References: [8] Aug 31, 2022 — Current therapies for hearing loss are hearing aids or cochlear implants. No biological therapies exist. [5] by D Brotto · 2024 — Several preclinical studies have investigated the ability of AAV gene therapies to rescue hearing loss in mouse models with mutations in TMC1 (DFNB7 and DFNB11) ...

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:

• Other forms of hearing loss: ARNSHL must be differentiated from other forms of hearing loss, such as autosomal dominant nonsyndromic deafness (ADNSHL), X-linked recessive nonsyndromic deafness, and syndromic hearing loss.
• Genetic testing: Genetic testing is essential to confirm the diagnosis of ARNSHL. This can involve testing for mutations in genes associated with ARNSHL, such as GJB2 or OTOF [1].
• Family history: A thorough family history is crucial to determine if there is a pattern of inheritance consistent with ARNSHL.
• Other medical conditions: Certain medical conditions, such as Usher syndrome or Pendred syndrome, can present with hearing loss and must be ruled out in the differential diagnosis.

According to the Igenomix Syndromic and Nonsyndromic Deafness Precision Panel, this panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of ARNSHL [8].

In terms of specific genetic conditions that may present with similar symptoms, it's worth noting that:

• GJB2-related autosomal recessive nonsyndromic hearing loss is the most common genetic cause of congenital severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT [2].
• OTOF-related ANSD is characterized by congenital or prelingual, typically severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT [3].

References:

[1] Feng Y. Autosomal recessive nonsyndromic deafness: a review of the literature. 2023.

[2] GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT [2].

[3] OTOF-related ANSD is characterized by congenital or prelingual, typically severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT [3].

[8] The Igenomix Syndromic and Nonsyndromic Deafness Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of ARNSHL [8].