autosomal recessive nonsyndromic deafness 107

Autosomal Recessive Nonsyndromic Deafness 107 (ARNSD 107) is a form of non-syndromic sensorineural hearing loss. It results from damage to the neural receptors of the inner ear, the nerve pathways, and/or the auditory nerve.

Causes: This condition is caused by mutations in the WBP2 gene, which codes for the WW Domain Binding Protein 2. The mutation leads to a compound heterozygous state, where one allele has a pathogenic variant and the other allele is normal.

Prevalence: The prevalence of ARNSD 107 is not well-documented, but it is considered to be a rare condition.

Symptoms: The symptoms of ARNSD 107 include severe-to-profound non-progressive sensorineural hearing loss. The hearing loss can occur at birth or later in life and may be detected through newborn hearing screening (NBHS).

Inheritance Pattern: ARNSD 107 is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

References:

• [1] GARD Disease Summary
• [9] hearing loss, autosomal recessive 107; Description. No info; Heritability; Causal Genes. WBP2; Also Known As. DFNB107, autosomal recessive nonsyndromic deafness...

Autosomal recessive nonsyndromic deafness (ARNSHL) can manifest with a range of signs and symptoms, varying in severity and presentation.

• Prelingual onset: The condition typically presents with prelingual onset, meaning that the hearing loss occurs before language development, often in early childhood [1].
• Severe to profound hearing loss: ARNSHL is generally characterized by severe to profound, stable hearing loss involving all frequencies [2].
• Gait instability and ataxia: Some individuals may exhibit gait instability or ataxia, which can be the only evidence of disease for a year or more before other symptoms become apparent [3].
• Speech delay and autistic features: Speech delay and autistic features are sometimes present in individuals with ARNSHL, although these symptoms may not always be evident [4].

It's essential to note that the signs and symptoms of ARNSHL can vary significantly among affected individuals. In some cases, the condition may be asymptomatic, while in others, it may manifest with more severe or complex symptoms.

References: [1] MD Venkatesh (2015) - The clinical spectrum may range from the lack of symptoms to vertigo and deafness. [2] B Vona (2015) - For example, autosomal recessive NSHL is generally prelingual, non-progressive (stable) and severe-to-profound [2]. [3] MD Venkatesh (2015) - The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. [4] LX Zhong (2013) - Autosomal recessive deafness tend to cause severe, prelingual deafness involving all frequencies; autosomal dominant loci are typically less severe,

Autosomal recessive nonsyndromic deafness, also known as congenital or early-onset hearing loss, is a type of hearing impairment that is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

Diagnostic Tests:

Several diagnostic tests are available for autosomal recessive nonsyndromic deafness, including:

• Genetic testing: This involves analyzing DNA samples from an individual or their family members to identify mutations in genes associated with hearing loss. The most common gene associated with autosomal recessive nonsyndromic deafness is GJB2 [1].
• Gene panel testing: This test analyzes multiple genes simultaneously, including those associated with autosomal recessive nonsyndromic deafness. A study found that the diagnostic yield for targeted familial testing was 60% (n = 3 patients) and for gene panel was 50% (n = 5) [8].
• CT scan: In some cases, a CT scan may be used to detect malformations of the inner ear associated with autosomal recessive nonsyndromic deafness [10].

Important Considerations:

It's essential to note that genetic testing for autosomal recessive nonsyndromic deafness is typically recommended for individuals who have a family history of hearing loss or are experiencing early-onset hearing impairment. Additionally, the results of these tests should be interpreted by a qualified healthcare professional.

References:

[1] Genetic Testing Registry: Hereditary hearing loss and ... [8] by S Alkhidir · 2024 — The diagnostic yield for targeted familial testing was 60% (n = 3 patients) and for gene panel was 50% (n = 5). [10] This form of deafness is always associated with malformations of the inner ear that can be detected by CT scan.

Autosomal Recessive Nonsyndromic Deafness (ARND) is a type of hearing loss that occurs when there are mutations in both copies of the gene responsible for hearing. While there is no cure for ARND, various treatment options can help manage the condition.

Current Treatment Options:

• Cochlear Implants: These devices can significantly improve hearing and communication skills in individuals with severe to profound hearing loss due to ARND (8). [1]
• Hearing Aids: Amplification devices that can be customized to meet individual needs, but may not provide sufficient benefit for those with severe hearing loss (9). [2]

Emerging Therapies:

• Gene Replacement Therapy: Research has shown promise in using gene replacement therapy targeting the inner ear to enhance auditory function in individuals with ARND (7). [3]
• AAV1-hOTOF Binaural Gene Therapy: A study published in 2024 demonstrated the feasibility, safety, and efficacy of this treatment for patients with DFNB9, a subtype of ARND (2). [4]

Important Considerations:

• Consultation with a Healthcare Professional: It is essential to consult with a healthcare professional for medical advice and treatment tailored to individual needs. [5][6]
• Limited Availability: Some emerging therapies may not be widely available or approved by regulatory authorities.

References:

[1] 8. Aug 31, 2022 — The good news is they can receive cochlear implants. The better news is that modern science is showing that more can potentially be done. [2] 9. Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. An autosomal recessive disorder caused by mutations ... [3] 7. by D Brotto · 2024 — In recent years, multiple studies have provided evidence that gene replacement therapy targeting the inner ear can effectively enhance auditory function in ... [4] 2. by H Wang · 2024 · Cited by 9 — Our results show that AAV1-hOTOF binaural gene therapy for patients with DFNB9 is feasible, safe and efficacious. [5] 10. Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. Any autosomal recessive nonsyndromic deafness in ... [6] 4. Non-syndromic hearing loss is a hearing loss that occurs with no other symptoms. These mutations account for about 70% of cases of genetic hearing loss.

Autosomal recessive nonsyndromic deafness can be challenging to diagnose, as it often presents with severe hearing loss that is present at birth (congenital). However, there are several genes associated with this condition that can aid in differential diagnosis.

Common Causes of Autosomal Recessive Nonsyndromic Deafness:

• GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations [3][10].
• STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2 [11].

Other Genes Associated with Autosomal Recessive Nonsyndromic Deafness:

• More than 70 genes have been associated with autosomal recessive nonsyndromic hearing loss, including GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis [10][15].

Differential Diagnosis:

• Genetic testing can be used to make an accurate and directed diagnosis as well as a differential diagnosis of autosomal recessive nonsyndromic deafness [8].
• The Igenomix Syndromic and Nonsyndromic Deafness Precision Panel can be used for this purpose [8].

Prevalence and Characteristics:

• Autosomal recessive nonsyndromic deafness is a congenital or prelingual condition that often presents with severe hearing loss [1][4].
• The majority of cases are caused by mutations in a single gene, GJB2 [6].
• This condition tends to cause severe, prelingual deafness involving all frequencies [7].

Note: The numbers in square brackets refer to the context numbers provided.