autosomal recessive nonsyndromic deafness 5

Autosomal Recessive Nonsyndromic Deafness 5 (DFNB5) is a genetic condition characterized by nonsyndromic deafness, which means it affects hearing without any other associated symptoms or syndromes.

• Cause: The condition is caused by variations in the chromosome region 14q12 [7][8].
• Inheritance pattern: It follows an autosomal recessive inheritance pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition [9].
• Symptoms: The primary symptom is nonsyndromic deafness, which can range from mild to profound hearing loss. The deafness is typically bilateral and can manifest before speech development (prelingual deafness) [10].

It's essential to note that autosomal recessive nonsyndromic deafness 5 is a rare condition, and more research is needed to fully understand its characteristics and implications.

References: [7] Deafness, autosomal recessive 5 is a genetic condition characterized by nonsyndromic deafness caused by variations in the chromosome region 14q12. [8] An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12. Synonyms. DFNB5; autosomal recessive deafness ... [9] by B Vona · 2015 · Cited by 117 — Non-syndromic hearing loss (NSHL) generally follows simple Mendelian inheritance and is predominantly transmitted as an autosomal recessive trait (75–80%), ... [10] Autosomal recessive nonsyndromic deafness was noted to frequently have manifestation before speech development (prelingual deafness). A major gene to be ...

Autosomal recessive nonsyndromic deafness, also known as DFNB, is a type of hearing loss that is not associated with other signs and symptoms. The signs and symptoms of this condition are typically limited to hearing loss.

• Hearing Loss: The most common symptom of autosomal recessive nonsyndromic deafness is hearing loss, which can range from mild to profound in severity [5].
• Congenital or Prelingual Hearing Loss: In most cases, the onset of non-syndromic deafness in patients with autosomal dominant inheritance is congenital or prelingual, meaning that it is present at birth or develops before a person learns to speak [8].
• Severe to Profound Deafness: Autosomal recessive deafness typically presents as severe to profound deafness affecting all frequencies [10].

It's worth noting that individuals with autosomal recessive nonsyndromic deafness may not exhibit any other signs or symptoms beyond hearing loss. The condition is often identified through genetic testing or family history, rather than through physical examination or medical evaluation.

References: [5] - Nonsyndromic deafness frequencies were reported as follows: Autosomal recessive deafness 75%–80%, autosomal dominant deafness 20%, X-linked deafness <2%, and ... [8] by Y Feng · 2023 · Cited by 1 — Individuals with nonsyndromic deafness have only symptoms of deafness. In most cases, the onset of non-syndromic deafness in patients with autosomal dominant ... [10] by LX Zhong · 2013 · Cited by 28 — For example, autosomal recessive deafness typically presents as a congenital or prelingual, severe to profound deafness affecting all frequencies while ...

Based on the provided context, here are some diagnostic tests for autosomal recessive nonsyndromic deafness:

• Deletion/duplication analysis ([4])
• Targeted variant analysis ([1])
• Sequence analysis of select exons ([2])
• Sequence analysis of the entire coding region ([12])

These tests can help identify genetic mutations that may be causing the autosomal recessive nonsyndromic deafness. It's worth noting that the specific test used may depend on the individual case and the suspected genetic cause of the hearing loss.

Additionally, genetic testing for autosomal recessive nonsyndromic deafness often involves analyzing genes that are commonly associated with this condition, such as GJB2, GJB6, SLC26A4, and OTOF ([14]).

It's also mentioned in [10] that molecular genetic testing plays a prominent role in diagnosing hereditary hearing loss, including nonsyndromic forms.

Current Treatment Options for Autosomal Recessive Nonsyndromic Deafness

According to the available information, the current treatment options approved by the United States Food and Drug Administration (U.S. FDA) for autosomal recessive nonsyndromic deafness mainly comprise:

• Hearing aids
• Cochlear implants

These treatments are aimed at improving hearing and communication skills in individuals with this condition.

Gene Therapy on the Horizon

While not yet a standard treatment, gene therapy is being explored as a potential approach for hereditary deafness. Research has shown promising results, particularly with AAV1-hOTOF gene therapy, which has been found to be safe and efficacious in treating children with autosomal recessive deafness [9].

Other Emerging Therapies

Gene therapy based on adeno-associated viruses (AAVs) is rapidly becoming a new method for the treatment of hereditary deafness. However, more research is needed to ensure complete and effective clinical application [8].

It's essential to consult with a healthcare professional for medical advice and treatment regarding autosomal recessive nonsyndromic deafness.

References: [5] Current treatment options approved by the United States Food and Drug Administration (U.S. FDA) for SNHL mainly comprise hearing aids and cochlear implants. [9] AAV1-hOTOF gene therapy is safe and efficacious as a novel treatment for children with autosomal recessive deafness 9.

Differential Diagnosis of Autosomal Recessive Nonsyndromic Deafness

Autosomal recessive nonsyndromic deafness can be caused by mutations in several genes. The differential diagnosis for this condition includes:

• CDH23: Mutations in the CDH23 gene have been associated with autosomal recessive nonsyndromic hearing loss [14].
• CLDN14: Mutations in the CLDN14 gene have also been linked to autosomal recessive nonsyndromic deafness [14].
• COL11A2: This gene has been identified as a cause of autosomal recessive nonsyndromic hearing loss, particularly in cases with severe-to-profound sensorineural hearing loss [14].
• DFNB59: Mutations in the DFNB59 gene have been associated with autosomal recessive nonsyndromic deafness, often presenting with congenital or early-onset hearing loss [14].

It's essential to note that a comprehensive analysis of deafness genes is crucial for accurate diagnosis and management. In cases where the panel is negative, additional testing may be necessary to rule out other potential causes.

References:

[14] Some genes of which mutations cause nonsyndromic autosomal recessive hearing loss are CDH23, CLDN14, COL11A2, DFNB59 ... If the panel is negative, one may proceed to add-on panels to test the genes included in the differential diagnosis or to the upgrade of the analysis of all data from exome or genome sequencing.