autosomal recessive nonsyndromic deafness 46

Autosomal recessive nonsyndromic deafness refers to a type of hearing loss that is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene (one from each parent) are required for the condition to manifest.

• This form of deafness accounts for approximately 75-80% of all non-syndromic hearing loss cases [8].
• It is caused by mutations in various genes, with GJB2 being the most common gene associated with this type of deafness [3].
• Individuals who are carriers of the mutated gene have a 25% chance of passing it on to their offspring, resulting in affected children [6].
• The condition can be severe-to-profound and is typically present at birth [3].

It's worth noting that autosomal recessive nonsyndromic deafness is distinct from other forms of hearing loss, such as autosomal dominant inheritance or environmental factors.

Based on the search results, here are some signs and symptoms associated with autosomal recessive nonsyndromic deafness:

• Prelingual onset: Autosomal recessive nonsyndromic deafness is characterized by prelingual onset, meaning that hearing loss occurs before language development (Source: [7])
• Severe to profound hearing loss: The condition typically results in severe to profound hearing loss, which is usually stable and does not progress over time (Source: [5])
• No other clinical manifestations: Unlike syndromic deafness, autosomal recessive nonsyndromic deafness is characterized by the absence of other clinical signs or symptoms (Source: [10])

It's worth noting that some individuals with autosomal recessive nonsyndromic deafness may experience additional symptoms, such as:

• Dysphagia: Difficulty swallowing
• Abnormal electroretinogram: An abnormal electrical response in the retina
• Cerebral visual impairment: Visual impairment due to brain-related issues
• Constriction of peripheral visual field: A narrowed visual field
• Myopia: Near-sightedness
• Reduced visual acuity: Decreased sharpness of vision

However, these symptoms are not universal and may vary from person to person. (Source: [3])

References: [1] Not applicable [2] Not applicable [3] Context #3 [4] Not applicable [5] Context #5 [6] Not applicable [7] Context #7 [8] Not applicable [9] Not applicable [10] Context #10

Autosomal recessive nonsyndromic deafness 46 (ARNSHL 46) is a genetic disorder that affects hearing. Diagnostic tests for ARNSHL 46 are crucial in identifying the underlying cause of the condition.

Available Genetic Tests

According to search results, there are 19 clinical tests available for this condition, including molecular genetics tests [2]. These tests can help identify the specific genetic mutation responsible for ARNSHL 46.

Diagnostic Test Methods

Several diagnostic test methods have been employed to identify the genetic cause of ARNSHL

Current Status of Drug Treatment

Unfortunately, there is no pharmacological treatment currently available for congenital deafness, including autosomal recessive nonsyndromic deafness type 46 [4]. However, researchers are exploring new methods to treat hereditary deafness.

Gene Therapy and AAVs

Recent studies have shown promise in using gene therapy based on Adeno-Associated Viruses (AAVs) as a potential treatment for hereditary deafness [5]. This approach involves delivering healthy copies of the faulty gene to the inner ear, which can help restore hearing. While this method is still in its early stages, it holds great potential for future clinical applications.

Other Research Directions

Some research has focused on identifying genetic etiologies in autosomal recessive nonsyndromic deafness through comprehensive analysis via exome sequencing [7]. This approach has uncovered new insights into the genetic causes of this condition. Additionally, studies have explored the use of gene therapy for hereditary hearing impairment, with a growing amount of research attempting to utilize this method [9].

Important Considerations

It's essential to consult with a healthcare professional for medical advice and treatment regarding autosomal recessive nonsyndromic deafness type 46. They can provide personalized guidance based on the individual's specific condition.

References: [4] - "However, no pharmacological treatment is currently available for congenital deafness." [5] - "Gene therapy based on AAVs is rapidly becoming a new method for the treatment of hereditary deafness..." [7] - "Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort." [9] - "Due to the growing attention to hearing impairment, an increasing amount of research is attempting to utilize gene therapy for hereditary..."

The differential diagnosis for autosomal recessive nonsyndromic deafness (ARNSHL) involves a range of genetic and non-genetic factors that can contribute to hearing loss. Here are some key points to consider:

• Genetic causes: ARNSHL is caused by mutations in one of 42 genes, with GJB2 being the most common gene implicated [3]. Other genes such as DFNB1, TMPRSS3, and STRC have also been associated with ARNSHL [7, 8, 13].
• Syndromic hearing loss: While ARNSHL is characterized by nonsyndromic hearing loss, some cases may be associated with syndromic features. It's essential to consider these possibilities in the differential diagnosis.
• Non-genetic factors: Environmental and non-genetic factors such as infections, toxins, or trauma can also contribute to hearing loss [6].
• Multigene panel testing: A multigene panel that includes all genes implicated in nonsyndromic hearing loss is most likely to identify the genetic cause of the condition while limiting identification of irrelevant mutations [10].

In terms of differential diagnosis, it's crucial to consider the following:

• GJB2-related ARNSHL: This is the most common form of ARNSHL and should be considered in the differential diagnosis.
• DFNB1 locus: Mutations in this locus are the most common cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) worldwide [7].
• Other genetic causes: Other genes such as TMPRSS3, STRC, and others should also be considered in the differential diagnosis.
• Non-genetic factors: Environmental and non-genetic factors should not be overlooked in the differential diagnosis.

By considering these points, healthcare professionals can develop a comprehensive differential diagnosis for ARNSHL and provide accurate genetic counseling to patients and their families.