autosomal recessive nonsyndromic deafness 84B

Autosomal recessive nonsyndromic deafness 84B, also known as DFNB84B, is a form of non-syndromic deafness

Autosomal recessive nonsyndromic deafness 84B (DFNB84B) is a form of hearing loss that affects the ability to hear sounds. The signs and symptoms of this condition can vary from person to person, but here are some common characteristics:

• Progressive bilateral sensorineural hearing loss: This means that the hearing loss starts early in life and gets progressively worse over time, affecting both ears.
• Prelingual onset: This refers to the fact that the hearing loss occurs before a person can develop language skills, typically before the age of 3-5 years.
• Mildly abnormal neurological examination: In some cases, individuals with DFNB84B may have mildly abnormal results on neurological examinations.

It's essential to note that these symptoms are based on the information provided in search result [7] and [8], which describe the characteristics of autosomal recessive nonsyndromic deafness 84A (DFNB84A), a related condition. However, as both conditions share similar genetic causes and manifestations, the signs and symptoms mentioned above can be considered relevant to DFNB84B as well.

Please keep in mind that these symptoms are not exhaustive, and individual experiences may vary. If you have any further questions or would like more information on this topic, feel free to ask!

Autosomal Recessive Nonsyndromic Deafness 84B, also known as DFNB84A, is a form of hearing loss caused by mutations in the PTPRQ gene. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition.

Diagnostic Tests:

• Clinical Genetic Test offered by Intergen for conditions such as Autosomal Recessive Nonsyndromic Hearing Loss 84B is ideal for patients with a clinical suspicion of unilateral or bilateral non-syndromic hearing loss [1].
• This test includes mitochondrial genome analysis and is indicated for patients with any type of hearing loss of potentially genetic etiology, either syndromic or nonsyndromic [5].

Genetic Testing Benefits:

• Genetic test results may provide accurate determination of the etiology of the patient's hearing loss [9].
• Accurate diagnosis can help in providing appropriate management and counseling to the family members who are carriers of the mutated gene.

Inheritance Pattern: Autosomal Recessive Nonsyndromic Deafness 84B is inherited in an autosomal recessive manner, which means that:

• An individual must inherit two copies of the mutated gene (one from each parent) to express the condition [3].
• Carriers of the mutated gene have one normal and one mutated copy of the gene and are typically asymptomatic but can pass the mutated gene to their offspring [6].

Prevalence: An estimated 70% of genetic hearing loss is nonsyndromic, with approximately 80% of these cases being transmitted as an autosomal recessive trait [8].

Autosomal Recessive Nonsyndromic Deafness 84B (DFNB84A) is a form of hearing loss caused by a mutation in the PTPRQ gene, which maps to chromosome 12q21. Unfortunately, there is limited information available on specific drug treatments for this condition.

However, it's worth noting that treatment options for autosomal recessive nonsyndromic deafness often focus on managing symptoms and improving communication skills rather than curing the underlying genetic cause. This may include:

• Cochlear implants or other assistive listening devices to improve hearing
• Speech therapy to develop communication skills
• Counseling to address emotional and psychological impacts of hearing loss

It's also worth mentioning that gene therapy has shown promise in treating certain forms of inherited deafness, including autosomal recessive nonsyndromic deafness. However, this is still a developing area of research, and more studies are needed to fully understand its potential.

In the case of DFNB84A, there is no specific mention of drug treatment in the available search results. The most relevant information comes from [6], which mentions that the condition is caused by a mutation in the PTPRQ gene, but does not provide any details on treatment options.

It's essential to consult with a healthcare professional for personalized advice and guidance on managing autosomal recessive nonsyndromic deafness 84B. They can help determine the best course of action based on individual circumstances and needs.

References:

• [6] mentions that DFNB84A is caused by mutation in the PTPRQ gene, but does not provide any details on treatment options.
• [7] provides general information on autosomal recessive nonsyndromic deafness, but does not specifically address treatment for DFNB84A.

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, as it is a genetic condition that affects hearing in individuals who are born with the mutation. However, there are several key factors and genes associated with ARNSHL that can aid in its differential diagnosis.

Common Causes of ARNSHL:

• Mutations in the GJB2 gene on chromosome 13q12 (5) are the most common cause of congenital severe-to-profound hearing loss.
• Mutations in the STRC gene are a common cause of moderate autosomal recessive nonsyndromic hearing loss (3).
• Deafness, autosomal recessive 1a is caused by mutations in the GJB2 gene on chromosome 13q12 (5).

Other Associated Genes and Factors:

• The DIAPH1 gene on chromosome 5q31 has been associated with DFNA1, a form of progressive low-frequency hearing loss (7).
• Mutations in the GJB2 gene are responsible for most cases of DFNB, which is caused by mutations in the GJB2 gene that codes for connexin 26 (8).
• Stereocilia morphogenesis defects have been linked to both vestibular dysfunction and deafness, suggesting a potential role in autosomal recessive hearing impairment (6).

Inheritance Patterns:

• Autosomal recessive inheritance accounts for approximately 85% of cases, with the remaining 10-15% being due to autosomal dominant inheritance (4).
• The majority of ARNSHL cases are inherited as an autosomal recessive trait (DFNB type), while a smaller percentage is inherited in an autosomal dominant manner.

Genetic Testing:

• Genetic testing can be used to identify mutations in the GJB2, STRC, and other associated genes.
• This can aid in confirming the diagnosis of ARNSHL and identifying the specific genetic cause.

It's essential to note that a comprehensive diagnostic evaluation should include a thorough medical history, physical examination, and audiological assessment. Genetic testing may also be recommended based on the individual's family history and clinical presentation.

References: (1) [5] (2) [3] (3) [4] (4) [6] (5) [7] (6) [8]