autosomal dominant nonsyndromic deafness 28

Autosomal dominant nonsyndromic deafness 28 (DFNA28) is a type of hearing impairment that affects one or both ears. It is characterized by mild to moderate hearing loss across most frequencies, which progresses to severe loss in the higher frequencies by the fifth decade [3][9].

The audioprofiles for DFNA28 are typically flat or gently downsloping, indicating a consistent level of hearing loss across different frequency ranges [5][7]. This type of deafness is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.

It's worth noting that DFNA28 is distinct from other forms of nonsyndromic hearing loss, such as autosomal recessive deafness 28 (DFNB28), which is caused by mutations in the TRIOBP gene on chromosome 22q13 [8].

Based on the provided context, it appears that autosomal dominant nonsyndrom

Autosomal dominant nonsyndromic deafness 28, also known as DFNA28, is a genetic disorder that affects hearing. Diagnostic tests for this condition are crucial in confirming the diagnosis and providing a clear understanding of the underlying cause.

Available Genetic Tests

According to search results [1], available genetic tests from the US can help identify the presence of GRHL2 mutations associated with autosomal dominant nonsyndromic deafness 28. These tests can be particularly useful for individuals suspected to have this condition, as they provide a clear indication of the genetic cause.

Genetic Testing

Genetic testing is available for clinical diagnosis of hereditary deafness, including autosomal dominant nonsyndromic hearing impairment [9]. This type of testing can help confirm a diagnosis and provide information on the specific gene mutation responsible for the condition.

Other Diagnostic Tests

While not specifically mentioned in the search results, other diagnostic tests such as audiometry and tympanometry may also be used to assess hearing function and identify any potential issues related to autosomal dominant nonsyndromic deafness 28.

References:

• [1] Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 28 and its clinical features, GRHL2, available genetic tests from US ...
• [9] by A Kochhar · 2007 · Cited by 232 — Molecular genetic testing available for clinical diagnosis of hereditary deafness ...

Based on the provided context, it appears that there are limited treatment options available for autosomal dominant nonsyndromic deafness.

• Currently, there is no specific drug treatment available for autosomal dominant nonsyndromic deafness [1]. Approaches to reversing or preventing genetic hearing loss are limited, and patients with mild and moderate hearing loss can only use hearing aids, while those with severe hearing loss may require cochlear implantation [5].
• Gene therapy offers an exciting opportunity to develop methodologies to treat genetic deafness, but it is still in its early stages of development [8].
• Early screening for genetic mutations is recommended for children diagnosed with sensorineural hearing loss, including autosomal dominant nonsyndromic deafness, to ensure timely and appropriate treatments [9].

It's worth noting that the context mentions a study from 2023 that maps autosomal dominant all-frequency hearing loss (DFNA44) to chromosome 3q28-29, but it does not provide information on drug treatment for this specific condition.

References: [1] - Context result 4 [5] - Context result 5 [8] - Context result 8 [9] - Context result 9

Autosomal dominant nonsyndromic deafness 28 (ADND28) is a form of non-syndromic sensorineural hearing loss caused by mutations in the GRHL2 gene on chromosome 8q22. To determine the differential diagnosis for ADND28, it's essential to consider other conditions that may present with similar symptoms.

• Other forms of autosomal dominant nonsyndromic deafness: Conditions like DFNA1, DFNA5, and DFNA8/12, which are caused by mutations in different genes (DIAPH1, MYH9, and TECTA, respectively), should be considered in the differential diagnosis. These conditions may present with similar patterns of hearing loss, although they may have distinct genetic causes [3][4].
• Syndromic forms of deafness: Although ADND28 is classified as a non-syndromic form of deafness, it's essential to consider syndromic forms that may also involve hearing loss. Conditions like Usher syndrome or Pendred syndrome, which are associated with other systemic anomalies, should be ruled out in the differential diagnosis [10].
• Other genetic causes of hearing loss: Mutations in genes such as GJB2, GJB6 (large deletion), and TECTA can also cause non-syndromic hearing loss. These conditions may present with similar symptoms to ADND28 and should be considered in the differential diagnosis [9].

In summary, the differential diagnosis for autosomal dominant nonsyndromic deafness 28 includes other forms of autosomal dominant nonsyndromic deafness, syndromic forms of deafness, and other genetic causes of hearing loss.

References:

[1] Deafness, autosomal dominant 28 is a form of non-syndromic sensorineural hearing loss caused by mutations in the GRHL2 gene on chromosome 8q22. It is ...

[3] by M Aldè · 2023 · Cited by 30 — DFNA1 is due to mutations in the DIAPH1 gene on chromosome 5q31 and causes progressive low-frequency HL, resulting in a profound degree by the fourth decade of ...

[4] by M Aldè · 2023 · Cited by 31 — Autosomal dominant non-syndromic sensorineural deafness 8/12 (DFNA8/12) is caused by heterozygous mutations in the TECTA gene on chromosome 11q23 [11]. Missense ...

[9] by N Mahdieh · 2010 · Cited by 122 — Here, the most common bases of congenital nonsyndromic hearing loss (NSHL) are discussed. We reviewed GJB2, GJB6 (large deletion), TECTA, ...

[10] Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms.