autosomal dominant nonsyndromic deafness 12

Autosomal dominant non-syndromic deafness 12 (DFNA12) is a type of hearing loss that is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to express the condition. This form of hearing loss typically occurs when there is a heterozygous mutation in the TECTA gene on chromosome 11q23.

According to search results [4], DFNA12 is caused by mutations in the TECTA gene, which codes for a protein that plays a crucial role in the structure and function of the cochlear nerve. This condition is characterized by prelingual onset, mid-frequency hearing loss, and is associated with mutations in the TECTA gene on chromosome 11q23.

It's worth noting that DFNA12 is an allelic disorder with autosomal recessive deafness-21 (DFNB21; 603629) [4]. This means that there may be some overlap or similarity between these two conditions, although they are distinct entities.

In terms of inheritance, autosomal dominant non-syndromic deafness 12 is typically inherited in an autosomal dominant pattern, which means that a single copy of the mutated gene is sufficient to express the condition. This can occur when one parent carries the mutated gene and passes it on to their offspring [5].

Overall, DFNA12 is a specific type of hearing loss that is caused by mutations in the TECTA gene and is inherited in an autosomal dominant pattern.

Autosomal dominant nonsyndromic deafness 12 (DFNA12) is a genetic condition that affects hearing. According to the available information, individuals with DFNA12 typically experience:

• Bilateral hearing loss: Hearing loss occurs in both ears and tends to be severe or profound [5].
• Childhood onset: Hearing loss often begins in childhood, although it can also occur later in life [5].
• Sensorineural deafness: The type of hearing loss associated with DFNA12 is sensorineural, which affects the inner ear's ability to convert sound vibrations into electrical signals [3].

It's worth noting that the characteristics of autosomal dominant non-syndromic HL (hearing loss) are heterogeneous, and not all individuals with DFNA12 may exhibit these exact signs and symptoms. However, in most cases, hearing loss tends to be bilateral and post-lingual in onset (occurring after language development has taken place) [5].

References: [3] - Cited by 30 — Autosomal dominant non-syndromic sensorineural deafness 8/12 (DFNA8/12) is caused by heterozygous mutations in the TECTA gene on chromosome 11q23 [11]. [5] - by M Aldè · 2023 · Cited by 31 — The characteristics of autosomal dominant non-syndromic HL are heterogenous. However, in most cases, HL tends to be bilateral, post-lingual in onset (childhood ...

Autosomal dominant nonsyndromic deafness, 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 for autosomal dominant nonsyndromic deafness 12 typically involve genetic testing to identify the specific gene mutation responsible for the condition. Some common diagnostic tests used include:

• Deletion/duplication analysis: This test looks for deletions or duplications of genetic material in the genes associated with DFNA12 (e.g., TECTA). [1]
• Sequence analysis of select exons: This test analyzes the DNA sequence of specific exons within the TECTA gene to identify any mutations. [2]
• Targeted variant analysis: This test looks for specific genetic variants in the TECTA gene that are associated with DFNA12. [3]

These tests can be performed using various techniques, such as

Autosomal dominant non-syndromic deafness (ADNSD) type DFNA12, also known as TECTA-related hearing loss, is a genetic disorder that affects the inner ear and leads to progressive hearing loss. While there is no cure for ADNSD, various treatment options are available to manage the condition and improve quality of life.

Current Treatment Options:

• Hearing Aids: The most common treatment for ADNSD is the use of hearing aids, which can significantly improve speech recognition and communication skills.
• Cochlear Implants: In severe cases of ADNSD, cochlear implants may be recommended to bypass damaged or non-functioning hair cells in the inner ear. These devices directly stimulate the auditory nerve, allowing individuals to perceive sound.
• Genetic Counseling: Genetic counseling is essential for families with a history of ADNSD, as it can help identify carriers and provide guidance on reproductive options.

Emerging Therapies:

• Gene Therapy: Researchers are exploring gene therapy as a potential treatment for ADNSD. This involves introducing healthy copies of the TECTA gene into cells to replace faulty ones.
• Stem Cell Therapy: Some studies suggest that stem cell therapy may be beneficial in regenerating or repairing damaged inner ear tissues.

Important Considerations:

• Early Intervention: Early diagnosis and intervention are crucial for effective management of ADNSD. Regular hearing assessments can help identify changes in hearing thresholds, allowing for timely treatment.
• Multidisciplinary Care: A team of healthcare professionals, including audiologists, ENT specialists, genetic counselors, and psychologists, should be involved in the care of individuals with ADNSD to provide comprehensive support.

References:

• [4] Discusses the importance of early intervention and multidisciplinary care for individuals with ADNSD.
• [12] Mentions the discovery of 124 non-syndromic hearing loss genes, including those related to autosomal dominant nonsyndromic deafness.
• [13] Provides an overview of the classification and inheritance patterns of nonsyndromic deafness, including autosomal dominant forms.

Please note that while these treatment options are available, they may not be universally effective or suitable for every individual with ADNSD. Ongoing research is necessary to improve our understanding of this condition and develop more targeted therapies.

Autosomal dominant nonsyndromic deafness 12 (DFNA8/12) is a genetic disorder that affects hearing. To determine the differential diagnosis for this condition, let's consider the following:

• Genetic basis: DFNA8/12 is caused by heterozygous mutations in the TECTA gene on chromosome 11q23 [4]. This means that individuals with this condition have a mutation in one copy of the TECTA gene.
• Symptoms: The symptoms of DFNA8/12 include progressive low-frequency hearing loss, which can lead to profound deafness by the fourth decade of life [2].
• Inheritance pattern: As an autosomal dominant disorder, individuals with DFNA8/12 have a 50% chance of passing the mutated gene to their offspring.

Considering these factors, the differential diagnosis for autosomal dominant nonsyndromic deafness 12 (DFNA8/12) may include:

• Other forms of autosomal dominant hearing loss: Conditions such as DFNA1, which is caused by mutations in the DIAPH1 gene on chromosome 5q31 [2], may be considered in the differential diagnosis.
• Autosomal recessive hearing loss: While DFNA8/12 is an autosomal dominant disorder, conditions like autosomal recessive nonsyndromic deafness (ARNSHL) may also be considered, especially if there are multiple affected family members or a history of consanguinity [6].
• Other genetic disorders affecting hearing: Conditions such as Pendred syndrome, which is caused by mutations in the SLC26A4 gene and can lead to mixed-type autosomal recessive deafness [9], may also be considered in the differential diagnosis.

It's essential to note that a comprehensive evaluation, including genetic testing and audiologic assessment, is necessary to confirm the diagnosis of DFNA8/12 and rule out other potential causes of hearing loss.