autosomal recessive nonsyndromic deafness 77

Autosomal Recessive Nonsyndromic Deafness 77 (DFNB77) is a form of non-syndromic hearing loss characterized by preserved low-frequency hearing, with a trend towards mild to moderate mid-frequency and high-frequency hearing loss [1]. This condition is caused by mutations in the LOXHD1 gene [3][5].

The clinical features of DFNB77 include postlingual onset with moderate to profound, progressive hearing loss [7][8][9]. It is an autosomal recessive disorder, meaning that it is inherited in a recessive pattern and affects both males and females equally.

In terms of inheritance, mutations in at least 30 genes have been identified in people with nonsyndromic hearing loss, including those with DFNB77 [4].

It's worth noting that the LOXHD1 gene plays a crucial role in the development and maintenance of hearing, and mutations in this gene can lead to severe hearing impairment.

References: [1] - Search result 2 [3] - Search result 3 [4] - Search result 4 [5] - Search result 5 [7] - Search result 7 [8] - Search result 8 [9] - Search result 9

Autosomal recessive nonsyndromic deafness 77 (DFNB77) is a form of hearing loss that affects individuals who have inherited two copies of the mutated gene, one from each parent. The signs and symptoms of this condition can vary in severity and may include:

• Moderate to profound hearing loss: Individuals with DFNB77 typically experience significant hearing impairment, which can range from moderate to profound (resulting in difficulty understanding soft speech or even loud noises) [1].
• Progressive hearing loss: The hearing loss associated with DFNB77 is often progressive, meaning it tends to worsen over time [9].

It's worth noting that the symptoms of autosomal recessive nonsyndromic deafness 77 are primarily related to hearing loss and do not involve other signs or symptoms typically seen in syndromic forms of deafness.

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.
• GJB2 gene testing: The GJB2 gene is a common cause of congenital severe-to-profound non-progressive sensorineural hearing loss. Genetic testing for the GJB2 gene can help establish the diagnosis of ARNSD [10].
• Other genetic tests: In addition to GJB2, other genes such as GJB6, SLC26A4, and OTOF are also associated with hearing loss. Diagnostic tests may include testing for mutations in these genes [13].
• Diagnostic yield: The diagnostic yield of different genetic tests can vary depending on the population being tested. For example, a study in Qatar found that genetic testing had a high diagnostic yield for nonsyndromic hearing loss [9].

It's essential to note that diagnostic tests should be performed by qualified professionals and in accredited laboratories to ensure accurate results.

References:

[8] Smith RJH. Diagnosis/testing.​​ Molecular genetic testing, available in clinical laboratories for many types of syndromic and nonsyndromic deafness, plays a crucial role in the diagnosis of hearing loss.

[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. Diagnosis/testing. The diagnosis of GJB2-AR NSHL is established in a proband with suggestive findings and...

[13] In diagnostic tests, genes that are common causes of hearing loss, such as GJB2, GJB6, SLC26A4, and OTOF, ...

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 [5] demonstrated the potential of cochlear implants or hearing aids as current clinical treatments for hereditary hearing loss (HHL), which includes autosomal recessive nonsyndromic deafness.

Additionally, gene therapy based on adeno-associated viruses (AAVs) is being investigated as a promising approach for treating hereditary deafness [2]. A study published in 2024 [7] highlighted the rapid progress being made in this area, although more research is needed to develop effective clinical treatments.

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

References: [2] by H Wang · 2024 · Cited by 11 — Gene therapy is a promising approach for hereditary deafness. [5] by L Jiang · 2023 · Cited by 51 — To date, more than 150 deafness genes have been recognized to be associated with HHL. [7] by D Brotto · 2024 — Gene therapy based on AAVs is rapidly becoming a new method for the treatment of hereditary deafness.

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 most cases of ARNSHL, is a crucial step in diagnosing this condition [1]. However, it's essential to note that genetic testing alone may not be sufficient to rule out other conditions.
• Other forms of hearing loss: Autosomal dominant nonsyndromic deafness (ADNSHL) and X-linked recessive nonsyndromic deafness (XLRNSHL) are two other forms of inherited hearing loss that can present with similar symptoms [6]. A differential diagnosis is necessary to rule out these conditions.
• Syndromic hearing loss: While ARNSHL is a non-syndromic condition, it's essential to consider syndromic hearing loss as part of the differential diagnosis. The Igenomix Syndromic and Nonsyndromic Deafness Precision Panel can be used to make an accurate and directed diagnosis [8].
• Other conditions: Other conditions that may present with similar symptoms include TMIE-related autosomal recessive prelingual deafness, which is characterized by profound hearing loss affecting all frequencies [7].

To summarize:

• Genetic testing for GJB2 mutations is a crucial step in diagnosing ARNSHL.
• A differential diagnosis is necessary to rule out other forms of inherited hearing loss, such as ADNSHL and XLRNSHL.
• Syndromic hearing loss should be considered as part of the differential diagnosis.
• Other conditions, such as TMIE-related autosomal recessive prelingual deafness, may present with similar symptoms.

References:

[1] Context 2 [6] Context 6 [7] Context 7 [8] Context 8