autosomal dominant nonsyndromic deafness 27

Autosomal dominant nonsyndromic deafness 27 (DFNA27) is a form of hearing loss that is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.

Characteristics:

• Postlingual progressive moderate to profound sensorineural hearing loss: This means that the hearing loss occurs after language development (postlingual) and progresses over time, affecting both ears. The degree of hearing loss can range from moderate to profound.
• Bilateral involvement: The hearing loss is typically bilateral, meaning it affects both ears.

Genetic basis:

• Variation in chromosome region 4q12-q13.1: DFNA27 is caused by variations in the chromosome region 4q12-q13.1.

Other forms of autosomal dominant nonsyndromic deafness:

• Early onset and varying degrees of severity: Other forms of autosomal dominant nonsyndromic deafness can have very early onset (even before language development) and varying degrees of severity, ranging from mild to profound hearing loss.
• Bilateral involvement: Like DFNA27, other forms of autosomal dominant nonsyndromic deafness often affect both ears.

References:

• [1] Peters et al. (2008) describe DFNA27 as a form of non-syndromic deafness characterized by postlingual progressive moderate to profound sensorineural hearing loss.
• [3] The condition is caused by variation in the chromosome region 4q12-q13.1, which is also mentioned in [9].
• [6] M Aldè (2023) notes that autosomal dominant non-syndromic HL tends to be bilateral and post-lingual in onset.
• [5] DFNA27 is a form of non-syndromic autosomal dominant deafness characterized by postlingual progressive moderate to profound sensorineural hearing loss.

Autosomal dominant non-syndromic deafness 27 (DFNA27) is a form of progressive neurosensory hearing loss that affects individuals with mutations in the COCH gene. The condition typically presents with postlingual onset, meaning it occurs after language development has taken place.

Clinical Features:

• Progressive Hearing Loss: DFNA27 is characterized by moderate to profound sensorineural hearing loss that progresses over time.
• Postlingual Onset: The hearing loss typically begins after language development has occurred, around 5-15 years old.
• High Frequencies Affected First: Initially, high frequencies are affected, with later involvement of middle and high frequencies.

According to [4], DFNA27 is a distinct form of autosomal dominant non-syndromic hearing loss that is caused by mutations in the COCH gene. The condition is associated with severe attacks of vertigo and subjective tinnitus (ringing in the ears) [2].

Other Associated Features:

• Malformations of the inner ear can be detected by CT scan.
• Rare cases may also involve thyroid gland disease.

It's essential to note that DFNA27 is a specific form of autosomal dominant non-syndromic hearing loss, and its characteristics should not be confused with other forms of hearing loss. If you have any further questions or would like more information on this topic, please don't hesitate to ask!

Diagnostic Tests for Autosomal Dominant Nonsyndromic Deafness 27

Autosomal dominant nonsyndromic deafness 27 (ADNSD27) is a form of hearing loss that can be inherited in an autosomal dominant pattern. Diagnostic tests are essential to confirm the diagnosis and rule out other conditions. Here are some diagnostic tests associated with ADNSD27:

• Sequence analysis of the entire coding region: This test involves analyzing the entire coding region of the gene(s) associated with ADNSD27 to identify any mutations or variations that may be causing the hearing loss (Source: [4])
• Targeted variant analysis: This test focuses on specific variants or mutations in the genes associated with ADNSD27, which can help confirm the diagnosis (Source: [2])
• Mutation scanning of select exons: This test involves analyzing specific exons (coding regions) of the gene(s) associated with ADNSD27 to identify any mutations or variations that may be causing the hearing loss (Source: [1])

It's essential to note that these diagnostic tests are typically performed by a genetic counselor or a medical geneticist, and the results should be interpreted in the context of the individual's medical history, family history, and other relevant factors.

References

[1] Molecular Genetics Tests · Targeted variant analysis (2) [2] Molecular Genetics Tests · Mutation scanning of select exons (1) [4] Molecular Genetics Tests · Sequence analysis of the entire coding region (27)

Based on the search results, it appears that there are emerging frontier technologies such as gene, drug or cell-based therapies being researched for an effective cure for hearing loss, including autosomal dominant nonsyndromic deafness.

• Currently, there is no cure for hearing loss [2].
• However, research has shown that greater understanding of the molecular intricacies of acquired and hereditary hearing loss has spurred considerable advances in inner ear gene therapy [5].
• Gene therapy is being researched as a potential treatment for hereditary hearing impairment, including autosomal dominant nonsyndromic deafness [7][8].

It's worth noting that while there are emerging treatments being researched, they may not yet be widely available or proven to be effective.

References: [2] - There is currently no cure for hearing loss. However, emerging frontier technologies such as gene, drug or cell-based therapies offer hope for an effective cure ... [5] by BH Duhon · 2024 — Greater understanding of the molecular intricacies of acquired and hereditary hearing loss has spurred considerable advances in inner ear gene therapy. [7] 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 ... [8] 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 ...

Based on the provided context, here are some possible differential diagnoses for autosomal dominant nonsyndromic deafness:

• DFNA1: This is a form of autosomal dominant non-syndromic hearing loss caused by mutations in the DIAPH1 gene. It results in progressive low-frequency hearing loss, leading to profound deafness (3).
• DFNA6/14/38: These are also forms of autosomal dominant non-syndromic hearing loss affecting the low frequencies. They are due to mutations in the MYO6 and TECTA genes, respectively (7).
• DFNB86: This is a form of autosomal recessive nonsyndromic hearing loss caused by different mutations, which can also result in autosomal dominant nonsyndromic hearing loss (DFNA65) (12).

It's worth noting that the differential diagnosis for autosomal dominant non-syndromic deafness can be complex and may involve multiple genes. A comprehensive genetic evaluation is often necessary to determine the underlying cause of the condition.

References: * [3] 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 ... * [7] by M Aldè · 2023 · Cited by 31 — DFNA1 and DFNA6/14/38 are the most common forms of autosomal dominant non-syndromic HL affecting the low frequencies. DFNA1 is due to mutations ... * [12] Different mutations can result in autosomal recessive nonsyndromic hearing loss (DFNB86) 11 or autosomal dominant nonsyndromic hearing loss (DFNA65) 7,14, early infantile epileptic encephalopathy ...