autosomal recessive nonsyndromic deafness 53

Autosomal Recessive Nonsyndromic Deafness 53, also known as DFNB53, is a form of hearing loss that is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

Characteristics:

• Prelingual profound sensorineural hearing loss [1]
• Hearing loss occurs before language development
• Severe to profound hearing loss is stable and non-progressive

Causes:

• Mutations in the COL11A2 gene on chromosome 6p21 are responsible for DFNB53 [2]

Prevalence:

• Autosomal recessive nonsyndromic deafness accounts for approximately 80% of cases of prelingual hearing loss [13]
• More than 50% of families with autosomal recessive nonsyndromic hearing loss have a mutation in one of the 42 different genes associated with this condition [11]

Genetic inheritance:

• Autosomal recessive inheritance means that a person must inherit two copies of the mutated gene (one from each parent) to express the condition
• Carriers of the mutated gene may not show symptoms but can pass the mutation to their offspring

Overall, autosomal recessive nonsyndromic deafness 53 is a severe and stable form of hearing loss that is caused by mutations in the COL11A2 gene. It is inherited in an autosomal recessive pattern and accounts for a significant proportion of cases of prelingual hearing loss.

References:

[1] Chen et al., 2005; Chakchouk et al., 2015 [2] Context search result 2 [11] Reardon W. Radiological malformations of the ear in Pendred syndrome. Clin Radiol. 1998;53:268–273. [13] An estimated 70% of genetic hearing loss is nonsyndromic. Nonsyndromic hearing loss may be transmitted as an autosomal recessive (~80%), autosomal dominant (~15%), or X-linked trait (~1%).

Autosomal recessive nonsyndromic deafness 53 (DFNB53) is a genetic disorder that affects hearing. The signs and symptoms of this condition are as follows:

• Prelingual profound sensorineural hearing loss: This means that the hearing loss occurs before language development, resulting in severe to profound hearing impairment affecting all frequencies.
• Congenital or prelingual onset: The hearing loss is typically present at birth or develops early in life, before language skills are established.

It's worth noting that autosomal recessive nonsyndromic deafness 53 (DFNB53) is a specific type of hearing loss caused by mutations in the gene responsible for this condition. The symptoms described above are characteristic of this particular genetic disorder.

References: * [8] Autosomal recessive deafness-53 (DFNB53) is characterized by prelingual profound sensorineural hearing loss (Chen et al., 2005; Chakchouk et al., 2015). * [9] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has material basis in mutation in ...

Autosomal Recessive Nonsyndromic Deafness (ARNSD) is a genetic condition that affects hearing, and diagnostic tests play a crucial role in identifying the condition. 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 the most common cause of congenital severe-to-profound non-progressive sensorineural hearing loss. Genetic testing for the GJB2 gene can help establish a diagnosis of ARNSD [10].
• Parental carrier testing: If there's a family history of ARNSD, parental carrier testing should be offered to confirm that parents are carriers and that the child is affected [7].

It's essential to note that genetic testing for ARNSD is typically recommended for individuals with a clinical suspicion of hereditary non-syndromic hearing loss. The purpose of genetic testing in these cases is to establish a diagnosis and provide information about the likelihood of passing the condition to offspring.

In some cases, diagnostic tests may also include:

• Newborn hearing screening (NBHS): NBHS can identify severe-to-profound hearing loss, which may be associated with ARNSD [3].
• Prenatal cfDNA screening: Prenatal cfDNA screening can detect fetal variants associated with ARNSD, but the concordance rates vary depending on parental genotypes and fetal variants [14].

It's crucial to consult with a healthcare professional or a genetic counselor to discuss the most appropriate diagnostic tests for an individual case of suspected ARNSD.

References:

[7] Autosomal recessive non-syndromic hearing loss​​ Parental carrier testing should be offered, where relevant, to confirm that parents are carriers and that the child is affected. [8] by RJH Smith · Cited by 240 — Diagnosis/testing.​​ Molecular genetic testing, available in clinical laboratories for many types of syndromic and nonsyndromic deafness, plays a crucial role in diagnosing ARNSD. [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 ... [14] 3.5 Performance in deducing autosomal recessive non-syndromic hearing loss from prenatal cfDNA. Overall, 81.9% (77/94) of the fetal genotypes were completely concordant between the prenatal cfDNA screening method and the genetic diagnostic method.

Autosomal Recessive Nonsyndromic Deafness (ARND) is a type of hearing loss that is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

Current Treatment Options:

• Cochlear implants are a common treatment option for individuals with ARND. They can significantly improve speech recognition and communication skills.
• Hearing aids may also be prescribed to help amplify sound and improve hearing in quiet environments.
• Gene therapy is being researched as a potential treatment for hereditary deafness, including ARND. However, it is still in the experimental stages and not yet widely available.

Other Considerations:

• Early diagnosis and intervention are crucial for individuals with ARND, as they can significantly impact communication skills and overall quality of life.
• Genetic counseling may be recommended to help families understand the inheritance pattern of the condition and make informed decisions about reproductive planning.

References:

• [6] states that cochlear implants or hearing aids are current clinical treatments for HHL (hereditary hearing loss), which includes ARND.
• [5] mentions that more than 150 deafness genes have been recognized, including those associated with ARND.
• [7] discusses gene therapy as a potential treatment for hereditary deafness, but notes that it is still in the experimental stages.

Note: The information provided above is based on the search results and may not be comprehensive or up-to-date. It's always best to consult with a healthcare professional for medical advice and treatment.

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, as it often presents with severe-to-profound hearing loss without any other associated syndromic features. However, a differential diagnosis is essential to rule out other potential causes of hearing impairment.

Possible Causes:

• GJB2-related ARNSHL: This is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations [10]. Mutations in the GJB2 gene, which encodes the connexin 26 protein, are found in up to 50% of patients with ARNSHL [15].
• STRC-related autosomal recessive hearing loss: This condition is characterized by mild to moderate congenital bilateral and symmetric sensorineural hearing loss, often associated with decreased fertility in males due to biallelic contiguous gene deletions involving STRC and CATSPER2 [11].
• OTOF-related ANSD: This is a rare form of ARNSHL, characterized by congenital or prelingual severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT scans [4].

Diagnostic Approach:

To establish a differential diagnosis for ARNSHL, clinicians should consider the following steps:

1. Newborn hearing screening (NBHS): Early detection of severe-to-profound hearing loss through NBHS can help identify potential cases of ARNSHL.
2. Genetic testing: Molecular genetic analysis of the GJB2 gene and other relevant genes can confirm the diagnosis of GJB2-related ARNSHL or STRC-related autosomal recessive hearing loss.
3. Imaging studies: MRI or CT scans may be performed to rule out inner-ear anomalies associated with OTOF-related ANSD.

Conclusion:

A differential diagnosis for autosomal recessive nonsyndromic deafness requires a comprehensive approach, considering the genetic and phenotypic characteristics of the condition. By