autosomal recessive nonsyndromic deafness 48

Autosomal recessive nonsyndromic deafness 48 (DFNB48) is a form of congenital hearing loss that affects all frequencies and is characterized by severe to profound sensorineural hearing loss. 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.

According to search results [1], DFNB48 is caused by mutations in the CIB2 gene and is associated with prelingual onset of hearing loss. This means that affected individuals are born with significant hearing impairment, which can range from severe to profound.

It's worth noting that autosomal recessive nonsyndromic deafness 48 is a specific form of non-syndromic sensorineural hearing loss, which is distinct from other forms of hearing loss such as autosomal dominant or X-linked conditions [13].

In terms of prevalence, it's estimated that genetic factors play a critical role in at least 50% of cases of congenital hearing loss, with autosomal recessive transmission accounting for approximately 80-90% of these cases [14].

Autosomal Recessive Nonsyndromic Deafness 48 (DFNB48) is a genetic condition that affects hearing. According to the available information, individuals with DFNB48 have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies.

• The hearing loss in DFNB48 typically begins before language development and can be stable over time [7].
• It's characterized by severe to profound hearing loss that is usually present from birth or develops early in life [8][9].

It's worth noting that the available information does not provide a comprehensive list of signs and symptoms specific to DFNB48. However, it suggests that the condition primarily affects hearing.

References: [7] - Context 7 [8] - Context 8 [9] - Context 9

Autosomal recessive nonsyndromic deafness (ARNSD) 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.

Diagnostic Tests:

Several diagnostic tests are available for ARNSD, including:

• Genetic testing: This involves analyzing DNA samples to identify mutations in genes associated with ARNSD, such as GJB2 and GJB6 [1, 3].
• Targeted familial testing: This is a type of genetic testing that focuses on identifying specific mutations in families where there is a known history of ARNSD [9].
• Gene panel testing: This involves analyzing multiple genes simultaneously to identify potential causes of hearing loss [9].

Diagnostic Yield:

Studies have shown that targeted familial testing has a diagnostic yield of around 60% (i.e., identifying the genetic cause of hearing loss in 60% of cases) [9]. Gene panel testing has a slightly lower diagnostic yield, at around 50% [9].

Other Tests:

While not directly related to diagnosing ARNSD, other tests such as CT scans can be used to rule out malformations of the inner ear that may be contributing to hearing loss [8].

It's worth noting that genetic testing is not currently recommended as a primary screen for hearing loss [4]. However, it can be a useful tool in identifying the underlying cause of hearing loss and providing information on potential risks to family members.

References:

[1] Genetic Testing Registry: Hereditary hearing loss and ... [3] Clinical resource with information about Autosomal recessive nonsyndromic hearing loss 1A and its clinical features, GJB2, GJB3, GJB6, available genetic ... [4] Jan 1, 2024 — Genetic testing has not been proposed as a primary screen for hearing loss. Genes associated with hereditary hearing loss may be associated ... [8] No malformations of the inner ear can be detected by CT scan. Mutations in the PDS gene are responsible for 7% of cases of childhood deafness. In these cases, ... [9] by S Alkhidir · 2024 — The diagnostic yield for targeted familial testing was 60% (n = 3 patients) and for gene panel was 50% (n = 5). Thus, we recommend using GJB2 ...

Based on the provided context, it appears that there are no specific drug treatments mentioned for autosomal recessive nonsyndromic deafness.

However, according to search result [7], current therapies for hearing loss include hearing aids or cochlear implants. There is no mention of biological therapies or drug treatments specifically for autosomal recessive nonsyndromic deafness.

It's worth noting that gene therapy has been explored as a potential treatment for certain types of hearing loss, including autosomal recessive deafness (see search result [12]). However, this is still an emerging area of research and not yet widely available as a treatment option.

In summary:

• There are no specific drug treatments mentioned for autosomal recessive nonsyndromic deafness.
• Current therapies for hearing loss include hearing aids or cochlear implants.
• Gene therapy has been explored as a potential treatment for certain types of hearing loss, including autosomal recessive deafness.

Differential Diagnosis of Autosomal Recessive Nonsyndromic Deafness

Autosomal recessive nonsyndromic deafness 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. The differential diagnosis of this condition involves identifying the underlying genetic cause of the hearing loss.

Common Causes:

• GJB2-related autosomal recessive nonsyndromic hearing loss: This is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations. It accounts for up to 50% of autosomal recessive hearing disorders in Europe.
• STRC-related autosomal recessive hearing loss: This condition comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2.

Other Causes:

• More than 70 genes have been associated with autosomal recessive nonsyndromic deafness, including the GJB2 gene, which encodes connexin 26.
• Other genes that can cause autosomal recessive nonsyndromic deafness include STRC, OTOF, and others.

Clinical Characteristics:

• Autosomal recessive nonsyndromic deafness is typically prelingual and severe to profound.
• The hearing loss is usually bilateral and symmetric.
• In some cases, the condition may be associated with other features such as decreased fertility in males.

References:

• [4] Mutations in the GJB2 gene lead to 50% of autosomal recessive non-syndromic hearing disorders in Europe (Al Mutery et al., 2022).
• [10] GJB2-related autosomal recessive nonsyndromic hearing loss is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations.
• [11] STRC-related autosomal recessive hearing loss comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2.