autosomal dominant nonsyndromic deafness 17

Autosomal dominant nonsyndromic deafness 17, also known as DFNA17, is a genetic condition characterized by hearing loss that is inherited in an autosomal dominant pattern.

• Inheritance: This means that only one copy of the mutated gene is needed to express the condition. If one parent has the condition, there is a 50% chance that each child will inherit the mutated gene and develop the condition [1][4].
• Clinical Features: The clinical features of DFNA17 include postlingual onset with high frequency progressive hearing loss [6]. This means that the hearing loss typically occurs after language development (postlingual) and affects the higher frequencies first.
• Genetic Cause: The condition is caused by a heterozygous mutation in the MYH9 gene on chromosome 22q12 [3].
• Prevalence: There is limited information available on the prevalence of DFNA17. However, it is considered to be a rare form of autosomal dominant nonsyndromic hearing loss.
• Genetic Testing: Genetic testing can confirm the diagnosis of DFNA17 and identify the specific mutation in the MYH9 gene [1].
• Prognosis: The prognosis for individuals with DFNA17 depends on various factors, including the severity of the hearing loss and the presence of any other health conditions. With proper management and support, many individuals with this condition can lead active and fulfilling lives.

References:

[1] Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 17 and its clinical features, MYH9, 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 [1] [3] A number sign (#) is used with this entry because autosomal dominant deafness-17 (DFNA17) is caused by heterozygous mutation in the MYH9 gene on chromosome 22q12. Clinical Features Lalwani et al. (1999) studied a 5-generation American family, previously reported by Lalwani et al. (1997), with deafness caused by cochleosaccular degeneration (CSD). [3] [4] Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed with autosomal dominant non-syndromic HL have a hearing-impaired parent, although de novo mutations should be considered in all cases of negative family history [4] [6] 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. Note: Table 4 lists selected genes associated with distinctive clinical features; for a current, comprehensive list of genes associated with autosomal dominant nonsyndromic hearing loss, please refer to the most recent literature [6]

Autosomal dominant nonsyndromic deafness 17 (DFNA17) is a genetic condition that affects hearing. According to the information available, DFNA17 is caused by heterozygous mutation in the MYH9 gene [9].

The signs and symptoms of autosomal dominant nonsyndromic deafness 17 are not explicitly mentioned in the provided context. However, it can be inferred that the condition primarily affects hearing, as it is a form of non-syndromic hearing loss.

It's worth noting that non-syndromic hearing loss, including DFNA17, typically does not present with other signs and symptoms beyond hearing loss [3][4]. The hearing loss associated with DFNA17 may be progressive and affect high frequencies [6].

In general, the signs and symptoms of autosomal dominant nonsyndromic deafness 17 are likely to be limited to hearing-related issues, without any additional systemic or physical manifestations.

Based on the provided context, here are some diagnostic tests for autosomal dominant nonsyndromic deafness:

• Genetic testing: This is a crucial step in diagnosing autosomal dominant nonsyndromic deafness. Genetic testing can identify mutations in specific genes that cause this condition. According to search result [7], genetic testing is useful not only for predicting performance after cochlear implantation but also for assessing residual hearing.
• Exome sequencing: Exome sequencing is a type of genetic testing that focuses on the protein-coding regions of the genome (exons). It can identify mutations in genes such as MYH9, which are associated with autosomal dominant nonsyndromic deafness [6].
• Genome sequencing: While less common than exome sequencing, genome sequencing can also be used to diagnose autosomal dominant nonsyndromic deafness. This involves analyzing the entire DNA sequence of an individual.
• Gene panels: Gene panels are a type of genetic testing that assesses multiple genes simultaneously. According to search result [4], a 138 gene panel is available for assessing non-coding variants, including those associated with autosomal dominant nonsyndromic deafness.

It's worth noting that diagnosis of autosomal dominant nonsyndromic deafness requires an evaluation by appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, and other relevant fields [5].

Based on the provided context, it appears that there is limited information available on the specific topic of drug treatment for autosomal dominant nonsyndromic deafness 17 (DFNA17).

However, I can provide some general information on the topic. Autosomal dominant nonsyndromic deafness 17 (DFNA17) is a genetic form of hearing loss that is caused by mutations in the MYH9 gene [1]. This condition is characterized by progressive sensorineural hearing loss, typically affecting high-frequency sounds [4].

Regarding treatment options, there are no specific medications or therapies mentioned in the provided context for DFNA17. However, it is worth noting that treatment with oral steroids can restore hearing during episodes of acute hearing loss (HL) in some cases [1]. Additionally, cochlear implantation may be considered for children with severe-to-profound HL [5].

It's essential to consult a healthcare professional for medical advice and treatment, as they can provide personalized guidance based on individual circumstances. They may also recommend further research or consultation with specialists in the field.

References: [1] M Aldè · 2023 · Cited by 31 [4] by RJH Smith · 2018 · Cited by 18 [5] by M Aldè · 2023 · Cited by 31

Autosomal dominant nonsyndromic deafness 17 (DFNA17) is a form of hearing loss that can be challenging to diagnose, as it may present with similar symptoms to other conditions. To arrive at an accurate diagnosis, healthcare professionals must consider the following differential diagnoses:

• Other forms of autosomal dominant deafness: Conditions such as DFNA20/26, caused by mutations in the ACTG1 gene, and DFNA5, caused by mutations in the WFS1 gene, may present with similar symptoms to DFNA17. These conditions can be ruled out through genetic testing.
• Sensory neural hearing loss: This condition is characterized by progressive high-frequency hearing loss and cochleosaccular degeneration, which are also features of DFNA17 [9].
• Cochlear disorders: Conditions such as otosclerosis, a bone growth in the middle ear that can cause hearing loss, may present with similar symptoms to DFNA17.
• Genetic syndromes: Certain genetic syndromes, such as Pendred syndrome and Jervell and Lange-Nielsen syndrome, can also cause hearing loss and must be considered in the differential diagnosis.

To diagnose autosomal dominant nonsyndromic deafness 17 accurately, healthcare professionals may use a combination of:

• Medical history: A thorough review of the patient's medical history, including any family history of hearing loss.
• Physical examination: A physical examination to rule out other conditions that may be causing the hearing loss.
• Genetic testing: Genetic testing can help identify mutations in the MYH9 gene, which is associated with DFNA17 [2].
• Audiological evaluation: An audiological evaluation, including a hearing test and other tests to assess the function of the auditory system.

By considering these differential diagnoses and using a combination of diagnostic tools, healthcare professionals can arrive at an accurate diagnosis of autosomal dominant nonsyndromic deafness 17.