autosomal recessive nonsyndromic deafness 1A

Autosomal recessive nonsyndromic deafness 1A, also known as DFNB1A, is a type of hearing loss that is caused by mutations in the GJB2 gene. This condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.

The GJB2 gene encodes for the gap junction protein connexin-26 (CX26), which plays a crucial role in the development and function of the inner ear. Mutations in this gene can disrupt the normal functioning of the inner ear, leading to severe-to-profound hearing loss.

According to [12], autosomal recessive nonsyndromic deafness 1A is an autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.

In most cases, hearing loss is the only finding and is referred to as nonsyndromic deafness [14]. This type of hearing loss can occur at birth or later in life, and it is often bilateral but sometimes asymmetric. The deafness is marked by early-onset, usually bilateral (but sometimes asymmetric) hearing loss with autosomal recessive transmission [8].

It's worth noting that this condition is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations [10]. Newborn hearing screening (NBHS) typically identifies severe-to-profound hearing loss in countries where available.

References: [10] Clinical characteristics. GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital (present at birth) severe-to-profound non-progressive sensorineural hearing loss in many world populations. [12] Mondo Description An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction. ... MONDO:0009076: autosomal recessive nonsyndromic deafness 1A . DOID:0110475: autosomal recessive ... [14] More than 50 Percent of prelingual hearing loss is genetic in origin, and of these up to 93 Percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be recognized by their associated syndromic features, but in most cases, hearing loss is the only finding and is referred to as nonsyndromic deafness. To date, more than 700 different mutations have been identified in ...

Autosomal recessive nonsyndromic deafness 1A, also known as DFNB1A, is a genetic disorder that affects hearing. The signs and symptoms of this condition are typically related to hearing loss.

• Prelingual onset: Hearing loss in individuals with autosomal recessive nonsyndromic deafness 1A usually begins before they learn to speak (prelingually) [7].
• Bilateral hearing loss: This condition is characterized by hearing loss that affects both ears, and it can range from mild to profound [4][7].
• Sensorineural hearing loss: The type of hearing loss associated with autosomal recessive nonsyndromic deafness 1A is sensorineural, which means that the problem lies in the inner ear or the auditory nerve [7].

It's worth noting that individuals with autosomal recessive nonsyndromic deafness 1A may not experience any other symptoms beyond hearing loss. The condition is typically diagnosed through genetic testing and audiometric evaluation.

References: [4] - Context result 4 [7] - Context result 7

Autosomal Recessive Nonsyndromic Deafness 1A (ARNSHL) is a form of non-syndromic sensorineural hearing loss caused by mutations in the GJB2 gene on chromosome 13q12. The diagnosis of ARNSHL depends on molecular genetic testing to identify deafness-causing mutations in GJB2 and/or GJB6 that alter the gap junction beta-2 protein.

Diagnostic Tests:

• Molecular genetic testing is the primary diagnostic test for ARNSHL.
• This test involves analyzing DNA samples from an individual to detect mutations in the GJB2 gene.
• The test can be performed on blood, saliva, or other tissue samples.
• It's essential to note that not all individuals with a family history of hearing loss will have a mutation in the GJB2 gene.

Other Diagnostic Considerations:

• In some cases, ARNSHL may be associated with malformations of the inner ear that can be detected by CT scan.
• Thyroid gland disease may also be present in rare cases.
• A comprehensive diagnostic evaluation should include a thorough medical history, physical examination, and auditory testing to rule out other potential causes of hearing loss.

Genetic Testing:

• Genetic testing for ARNSHL typically involves analyzing DNA samples from an individual and their family members.
• This can help identify the presence of mutations in the GJB2 gene and determine the inheritance pattern of the condition.
• Genetic counseling is often recommended to discuss the implications of genetic testing results.

References:

• [5] Deafness, autosomal recessive 1a is a form of non-syndromic sensorineural hearing loss caused by mutations in the GJB2 gene on chromosome 13q12.
• [4] Diagnosis of DFNB1 depends on molecular genetic testing to identify deafness-causing mutations in GJB2 and/or GJB6 that alter the gap junction beta-2 protein.
• [8] Hearing Loss Panel Tier 1. Mutations in GJB2 (connexin 26) are the most frequent cause of autosomal recessive nonsyndromic hearing loss.

Note: The above information is based on the search results provided and may not be an exhaustive list of diagnostic tests or considerations for ARNSHL.

Current Therapies for Autosomal Recessive Nonsyndromic Deafness 1A

Unfortunately, there is no specific drug treatment available for autosomal recessive nonsyndromic deafness 1A. The current therapies for hearing loss in this condition are limited to:

• Hearing Aids: These can be used to amplify sound and improve communication skills.
• Cochlear Implants: These devices bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing individuals to perceive sound.

Gene Therapy: A Promising Approach

While there is no specific drug treatment available for autosomal recessive nonsyndromic deafness 1A, gene therapy has been explored as a potential approach for treating hereditary deafness. Research has shown that gene therapy can be effective in restoring hearing function in animal models [5]. However, more research is needed to translate this into clinical practice.

Current Treatment Focus

The primary focus of treatment for autosomal recessive nonsyndromic deafness 1A is on managing the condition and improving communication skills. This may involve speech therapy, counseling, and other supportive services [7].

References:

• [7] Current therapies for hearing loss are hearing aids or cochlear implants. No biological therapies exist.
• [5] Gene therapy is a promising approach for hereditary deafness. We recently showed that unilateral AAV1-hOTOF gene therapy with dual ...

Differential Diagnosis of Autosomal Recessive Nonsyndromic Deafness 1A

Autosomal recessive