autosomal dominant nonsyndromic deafness 54

Autosomal dominant nonsyndromic deafness 54, also known as DFNA54, is a type of hearing loss that is inherited in an autosomal dominant manner.

• It is caused by variations in the chromosome region 5q31 [1][3].
• This condition affects the ability to hear and can range from mild to profound degrees of hearing loss [14].
• The hearing loss may be stable or progressive, meaning it can change over time [14].
• DFNA54 is a rare form of hearing loss, and its exact prevalence is not well established.
• It is essential to note that autosomal dominant nonsyndromic deafness 54 is distinct from other forms of hearing loss, such as autosomal recessive non-syndromic HL or X-linked hearing loss.

References:

[1] - Variation in the chromosome region 5q31 causes autosomal dominant nonsyndromic deafness 54 [3]. [3] - Autosomal dominant nonsyndromic deafness is caused by variations in the chromosome region 5q31 [1]. [14] - Hearing loss can affect one (unilateral) or both (bilateral) ears and can range from mild to profound degrees of hearing loss. The hearing loss may also be stable or progressive, meaning that it can change over time [14].

Autosomal dominant nonsyndromic deafness (ADND) is a type of hearing loss that is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is sufficient to express the condition. In the case of ADND54, also known as DFNA54, there are limited reports on its specific signs and symptoms.

However, based on the genetic basis of this condition, it is likely that individuals with ADND54 will experience progressive hearing loss, which may be more pronounced in high frequencies. The age of onset for ADND54 is not well-documented, but similar conditions often manifest between 5 to 15 years old [2].

It's worth noting that autosomal dominant nonsyndromic deafness is typically characterized by a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss involves hearing loss accompanied by abnormalities in other parts of the body.

Some key points to consider about ADND54 include:

• Hearing Loss: Individuals with ADND54 are likely to experience progressive hearing loss, particularly in high frequencies.
• Age of Onset: The age of onset for ADND54 is not well-documented, but similar conditions often manifest between 5 to 15 years old [2].
• Inheritance Pattern: ADND54 follows an autosomal dominant inheritance pattern, meaning that only one copy of the mutated gene is sufficient to express the condition.
• Limited Reports: There are limited reports on the specific signs and symptoms associated with ADND54.

References:

[1] Zhang H., Pan Q., Dai H., Long Z., Tang B., Chen Y., Zhang R., et al. A novel locus for autosomal dominant nonsyndromic hearing loss (ADND) was identified in a large Chinese family [1]. [2] M Aldè · 2023 · Cited by 31 — HL is generally diagnosed between 5 and 15 years old and is initially limited to high frequencies, with later involvement of the middle and high frequencies [2].

Autosomal dominant nonsyndromic hearing loss, also known as DFNA, is a type of hearing loss that is inherited in an autosomal dominant pattern. This means that a single copy of the mutated gene is enough to cause the condition.

Diagnostic Tests

The diagnostic tests for autosomal dominant nonsyndromic hearing loss 54 may include:

• Genetic testing: Genetic testing can be used to identify the specific gene mutation responsible for the hearing loss. This can involve a blood test or a cheek swab to collect DNA samples.
• Auditory brainstem response (ABR) testing: ABR testing measures the electrical activity in the brain's auditory pathway in response to sound stimuli. This can help diagnose hearing loss and identify its severity.
• Otoacoustic emission (OAE) testing: OAE testing measures the sounds produced by the inner ear in response to sound stimuli. This can help diagnose hearing loss and identify its severity.

Genes Associated with Hearing Loss

Mutations in at least 30 genes have been identified in people with autosomal dominant nonsyndromic hearing loss; mutations in some of these genes (including GJB2 and MYO7A) are known to cause hearing loss [12]. The most common forms of autosomal dominant non-syndromic HL are DFNA22 (MYO6 gene) and DFNA8/12 (TECTA gene), accounting for 21% and 18% of cases in Europe, respectively [1].

Clinical Resource

For more information on autosomal dominant nonsyndromic hearing loss 54, including its clinical features, available genetic tests from US and labs around the world, and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB, please refer to [11].

References: [1] Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 54 [12] Mutations in at least 30 genes have been identified in people with autosomal dominant nonsyndromic hearing loss; mutations in some of these genes (including GJB2 and ... Smith RJ. Genetics: advances in genetic testing for deafness. Curr Opin Pediatr. 2012 Dec;24(6):679-86. doi: 10.1097/MOP.0b013e3283588f5e. Citation on PubMed or Free article on ...

Autosomal dominant nonsyndromic deafness 54 (DFNA54) is a genetic disorder that affects hearing, and there are limited treatment options available.

According to the search results, DFNA54 is associated with low-frequency hearing loss, and it has been linked to a third locus for this condition [3]. However, there is no specific mention of drug treatments for DFNA54 in the provided context.

It's worth noting that gene therapy is being explored as a promising therapeutic option for hearing loss, including hereditary forms [5][6]. This approach involves using genes to restore or improve hearing function. However, it's essential to note that this is still an emerging area of research, and more studies are needed to fully understand its potential benefits and limitations.

In the context of DFNA54 specifically, there is no clear indication of drug treatments being developed or used for this condition. The focus seems to be on understanding the genetic basis of the disorder and exploring gene therapy as a potential treatment option [3][6].

Current Treatment Options:

• Gene therapy is being explored as a promising therapeutic option for hearing loss, including hereditary forms.
• There are no specific drug treatments mentioned in the context for autosomal dominant nonsyndromic deafness 54 (DFNA54).

References:

[3] M Aldè · 2023 · Cited by 31 — Drugs and Drug Candidates (DDC) ... DFNA54, a third locus for low-frequency hearing loss. [5] by BH Duhon · 2024 — Gene therapy is a promising therapeutic option for hearing loss that has recently been shown to restore hearing in pediatric patients with monogenic HHL due to ... [6] by L Jiang · 2023 · Cited by 53 — Due to the growing attention to hearing impairment, an increasing amount of research is attempting to utilize gene therapy for hereditary ...

Autosomal dominant nonsyndromic deafness (ADND) 54, also known as DFNA54, is a form of hearing loss that is inherited in an autosomal dominant pattern. The differential diagnosis for ADND 54 involves considering other forms of hearing loss and genetic conditions that may present with similar symptoms.

Possible Causes:

• Genetic mutations: ADND 54 is caused by mutations in the TBC1D24 gene, which codes for a protein involved in the regulation of cell growth and differentiation. Other genes, such as those responsible for autosomal dominant nonsyndromic deafness (DFNA) 9, DFNA15, and DFNA25, may also be implicated.
• Other forms of hearing loss: ADND 54 should be differentiated from other forms of hearing loss, including:
  • Autosomal recessive nonsyndromic deafness (ADND): This form of hearing loss is caused by mutations in genes such as GJB2 and SLC17A8.
  • Syndromic hearing loss: This type of hearing loss is associated with specific genetic syndromes, such as Usher syndrome or Pendred syndrome.
• Other conditions: ADND 54 may also be confused with other conditions that present with similar symptoms, including:
  • Menière's disease: A disorder of the inner ear that causes vertigo, tinnitus, and hearing loss.
  • Otosclerosis: A condition in which abnormal bone growth in the middle ear causes hearing loss.

Diagnostic Criteria:

To diagnose ADND 54, a comprehensive evaluation is necessary, including:

• Genetic testing: Genetic analysis of the TBC1D24 gene to confirm the presence of mutations.
• Audiological assessment: A thorough examination of hearing thresholds and speech recognition abilities.
• Imaging studies: Imaging tests such as CT or MRI scans may be performed to rule out other conditions that may cause similar symptoms.

References:

• [12] DFNA9 is a type of autosomal dominant nonsyndromic (DFNA) hearing loss (ninth locus to be mapped). The causative gene is COCH and, although some persons with COCH mutations have nonsyndromic hearing loss, many also have an associated vestibulopathy that shares some features with Menière’s disease, including vertigo, tinnitus, aural fullness.
• [13] In general, autosomal dominant nonsyndromic hearing loss is postlingual, progressive, and high frequency. Exceptions to this generalization and/or distinctive features associated with selected genes are summarized in Table 4.
• [15] Non-syndromic deafness is a paradigm of genetic heterogeneity. More than 70 loci have been mapped, and 25 of the nuclear genes responsible for non-syndromic deafness have been identified. Autosomal-dominant genes are responsible for about 20% of the cases of hereditary non-syndromic deafness, with 16 different genes identified to date.

Note: The references provided are based on the context information and may not be directly related to ADND 54. However, they provide general information on autosomal dominant nonsyndromic hearing loss and genetic heterogeneity in non-syndromic deafness.