autosomal recessive nonsyndromic deafness 57

Autosomal Recessive Nonsyndromic Deafness 57, also known as DFNB57, is a form of non-syndromic sensorineural hearing loss characterized by symmetric bilateral moderate to severe hearing loss. This condition typically presents in early childhood and may be mildly progressive.

The hearing loss associated with DFNB57 is represented by gently downward-sloping audiograms, indicating a gradual decline in hearing sensitivity across all frequencies. Vestibular function, which is responsible for balance and equilibrium, remains unaffected.

DFNB57 is inherited in an autosomal recessive pattern, meaning that affected individuals must inherit two copies of the mutated gene (one from each parent) to express the condition. Carriers of the mutation may not exhibit symptoms but can pass the mutated gene to their offspring.

It's worth noting that DFNB57 is one of many loci associated with autosomal recessive nonsyndromic hearing loss, which collectively account for more than 50% of families with this type of deafness in various populations.

Autosomal recessive nonsyndromic deafness 57 (DFNB57) is characterized by symmetric bilateral moderate to severe hearing loss, represented by gently downward-sloping audiograms [1]. This condition typically presents with prelingual onset and severe to profound, stable hearing loss.

The symptoms of DFNB57 include:

• Bilateral hearing loss: Hearing loss affects both ears equally, resulting in a symmetrical pattern.
• Moderate to severe hearing loss: The degree of hearing loss is moderate to severe, affecting all frequencies.
• Prelingual onset: Hearing loss occurs before the development of language skills, typically at birth or early childhood.

It's worth noting that DFNB57 is a specific type of autosomal recessive nonsyndromic deafness, and its symptoms may vary from person to person. However, in general, individuals with this condition experience significant hearing impairment that affects their ability to communicate effectively [9].

References: [1] - Characterized by symmetric bilateral moderate to severe hearing loss, represented by gently downward-sloping audiograms. [9] - An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss.

Autosomal Recessive Nonsyndromic Deafness (ARNSHL) 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 ARNSHL:

• Genetic testing: Molecular genetic testing is available for many types of syndromic and nonsyndromic deafness, including ARNSHL [8]. This test can identify mutations in genes associated with hearing loss, such as GJB2, GJB6, SLC26A4, and OTOF [13].
• GJB2 gene testing: The GJB2 gene is the most common cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations. Genetic testing for GJB2 mutations can be performed to establish a diagnosis of ARNSHL [10].
• Other genetic tests: In addition to GJB2, other genes such as GJB6, SLC26A4, and OTOF may also be tested to identify the underlying cause of hearing loss [13].
• Diagnostic yield: The diagnostic yield of different genetic tests for ARNSHL can vary depending on the population being studied. For example, a study in Qatar found that genetic testing had a high diagnostic yield for ARNSHL [9].

It's worth noting that the diagnosis of ARNSHL is established in a proband with suggestive findings and confirmed by genetic testing [10]. Additionally, hearing loss is one of the most common birth defects in humans, with an estimated prevalence of 1–3 in every 1000 newborns, and 70% of these cases are nonsyndromic [14].

References: [8] Smith RJH. Diagnosis/testing. Molecular genetic testing for deafness. In: Genetic Testing for Hearing Loss. Springer; 2019. [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. [13] In diagnostic tests, genes that are common causes of hearing loss, such as GJB2, GJB6, SLC26A4, and OTOF, ... [14] Hearing loss is one of the most common birth defects in humans, with an estimated prevalence of 1–3 in every 1000 newborns 1.Seventy percent of hearing loss cases are nonsyndromic, and one of ...

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, including drugs, specifically for autosomal recessive nonsyndromic deafness.

It's worth noting that gene therapy has been explored as a potential treatment for certain forms of genetic hearing loss, including autosomal recessive deafness (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 established drug treatments specifically for autosomal recessive nonsyndromic deafness. Treatment options may include hearing aids or cochlear implants, but further research is needed to explore potential biological therapies, including gene therapy.

Current therapies for hearing loss include hearing aids or cochlear implants. [7] Gene therapy has been explored as a potential treatment for certain forms of genetic hearing loss, including autosomal recessive deafness. [12]

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 of ARNSHL involves considering various genetic and non-genetic factors that may contribute to the condition.

Genetic Factors:

• Mutations in the GJB2 gene are the most common cause of ARNSHL, accounting for up to 50% of cases [15].
• Other genes associated with ARNSHL include STRC, OTOF, and MYO7A, among others.
• More than 70 genes have been linked to ARNSHL, highlighting the genetic heterogeneity of this condition [10].

Non-Genetic Factors:

• Prenatal infections, such as rubella or cytomegalovirus, can cause congenital hearing loss.
• Exposure to ototoxic substances during pregnancy may also contribute to hearing loss.

Diagnostic Approaches:

• Genetic testing for mutations in the GJB2 and other associated genes is a crucial step in diagnosing ARNSHL.
• Audiological evaluation, including pure-tone audiometry and speech audiometry, can help assess the extent of hearing loss.
• Imaging studies, such as MRI or CT scans, may be performed to rule out any inner-ear anomalies.

Differential Diagnosis:

• Autosomal dominant nonsyndromic deafness (ADNSHL) should be considered in cases where there is a family history of hearing loss.
• Syndromic hearing loss, associated with other physical and developmental abnormalities, can also be ruled out through comprehensive evaluation.

In summary, differential diagnosis of autosomal recessive nonsyndromic deafness involves considering both genetic and non-genetic factors that may contribute to the condition. Genetic testing for mutations in associated genes, along with audiologic and imaging evaluations, is essential for accurate diagnosis and management.