autosomal recessive nonsyndromic deafness 35

Autosomal Recessive Nonsyndromic Deafness 35 (DFNB35) is a form of non-syndromic hearing loss characterized by severe to profound hearing impairment affecting all frequencies. It is an autosomal recessive condition, meaning that it occurs when an individual inherits two copies of the mutated gene, one from each parent [4].

The symptoms of DFNB35 typically manifest before speech development (prelingual deafness) and are bilateral, meaning they affect both ears [8]. This form of hearing loss is caused by a mutation in the ESRRB gene, which plays a crucial role in the development and function of the inner ear [3].

According to research, DFNB35 is a relatively rare form of non-syndromic deafness, with only a few reported cases in families with consanguineous relationships [7]. The condition has been mapped to chromosome 14q24.1-14q24.3, providing valuable information for genetic testing and diagnosis [7].

It's essential to note that DFNB35 is distinct from other forms of non-syndromic hearing loss, such as Deafness, autosomal recessive 1a, which is caused by mutations in the GJB2 gene on chromosome 13q12 [10]. While both conditions are characterized by severe to profound hearing impairment, they have different genetic causes and manifestations.

References: [3] - Context result 3 [4] - Context result 4 [7] - Context result 7 [8] - Context result 8 [10] - Context result 10

Autosomal recessive nonsyndromic deafness 35 (DFNB35) is a genetic disorder that affects hearing. According to the available information, this condition is characterized by prelingual onset with stable hearing loss.

• The symptoms of autosomal recessive nonsyndromic deafness 35 are primarily related to hearing impairment [8].
• This condition typically presents with prelingual onset, meaning that the hearing loss occurs before language development [7].
• The hearing loss associated with DFNB35 is generally stable, indicating that it does not progress over time.

It's worth noting that autosomal recessive nonsyndromic deafness 35 is caused by a homozygous mutation in the ESRRB gene. This genetic mutation leads to the development of this specific type of hearing loss.

References: [7] - This condition is characterized by prelingual onset with stable hearing loss. [8] - A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-35 (DFNB35) is caused by homozygous mutation in the ESRRB gene.

Autosomal Recessive Nonsyndromic Deafness (ARNSHL) is a genetic disorder that affects hearing, and diagnostic tests play a crucial role in identifying the condition. Here are some key points about diagnostic tests for ARNSHL:

• Genetic testing: Molecular genetic testing is available for many types of syndromic and nonsyndromic deafness, including ARNSHL [9]. This test can identify mutations in genes associated with hearing loss.
• GJB2 gene testing: The GJB2 gene is the most common cause of congenital severe-to-profound non-progressive sensorineural hearing loss. Genetic testing for the GJB2 gene can help establish a diagnosis of ARNSHL [10].
• Parental carrier testing: If there's a family history of ARNSHL, parental carrier testing should be offered to confirm that parents are carriers and that the child is affected [7].
• Newborn hearing screening (NBHS): NBHS typically identifies severe-to-profound hearing loss in newborns. This can help identify cases of ARNSHL early on.
• Prenatal cfDNA screening: Prenatal cfDNA screening has been shown to be effective in deducing autosomal recessive non-syndromic hearing loss from prenatal cfDNA, with a concordance rate of 81.9% [14].

It's essential to note that the diagnosis of ARNSHL is established in a proband with suggestive findings and confirmed by genetic testing.

References: [7] Jan 1, 2024 — The purpose of genetic testing in individuals with suspected hereditary non-syndromic hearing loss (NSHL) is to establish the diagnosis of a ... [9] by RJH Smith · Cited by 240 — Diagnosis/testing.​​ Molecular genetic testing, available in clinical laboratories for many types of syndromic and nonsyndromic deafness, plays a ... [10] 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. ... Diagnosis/testing. The diagnosis of GJB2-AR NSHL is established in a proband with suggestive findings and ... [14] 3.5 Performance in deducing autosomal recessive non-syndromic hearing loss from prenatal cfDNA. Overall, 81.9% (77/94) of the fetal genotypes were completely concordant between the prenatal cfDNA screening method and the genetic diagnostic method.

Autosomal recessive nonsyndromic deafness, also known as non-syndromic hearing loss (NSHL), is a type of hearing impairment that is inherited in an autosomal recessive pattern. While there are no specific drug treatments for this condition, researchers have been exploring various therapeutic approaches to manage and potentially treat NSHL.

Current Treatment Options

Currently, the primary treatment options for NSHL include:

• Cochlear implants: These devices can bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing individuals with severe hearing loss to perceive sound.
• Hearing aids: Amplification devices that can help improve speech recognition and communication in individuals with mild to moderate hearing loss.

Emerging Therapies

Researchers are actively investigating several emerging therapies for NSHL, including:

• Gene therapy: This approach involves using viruses (such as adeno-associated virus, AAV) to deliver healthy copies of the deafness-causing gene to the affected ear. Gene therapy has shown promise in preclinical studies and is being explored in clinical trials.
• Stem cell therapy: Researchers are investigating the potential use of stem cells to regenerate or repair damaged auditory tissues.

Challenges and Future Directions

While these emerging therapies hold promise, significant challenges remain before they can be translated into effective treatments for NSHL. These include:

• Developing targeted therapies: Effective gene or stem cell therapies will require precise targeting of the affected ear tissue.
• Overcoming barriers to delivery: Delivering therapeutic agents to the inner ear is a complex task due to its unique anatomy and physiology.

References

• [1] Wang, H. (2024). Gene therapy for hereditary deafness: A promising approach. [2] Brotto, D. (2024). Gene therapy based on AAVs for the treatment of hereditary deafness. [3] Jiang, L. (2023). Current clinical treatments for hearing loss due to genetic mutations.

Note: The above information is a summary of the current state of research and treatment options for autosomal recessive nonsyndromic deafness. It is not intended to be a comprehensive or definitive guide, but rather an overview of the available information.

Autosomal Recessive Nonsyndromic Deafness 35 (ARNSD35) is a form of non-syndromic deafness characterized by severe to profound hearing loss. To determine the differential diagnosis for ARNSD35, it's essential to consider other genetic and environmental factors that may contribute to hearing impairment.

Possible Causes:

• GJB2 Gene Mutations: The GJB2 gene is responsible for encoding connexin 26, a protein crucial for inner ear function. Mutations in this gene can lead to autosomal recessive nonsyndromic deafness (ARNSHL), which is the most common genetic cause of congenital severe-to-profound hearing loss [2].
• ESRRB Gene Mutations: Mutations in the ESRRB gene, which encodes estrogen-related receptor beta, have been associated with autosomal recessive nonsyndromic hearing impairment (DFNB35) [1].
• COL11A2 Gene Mutations: COL11A2 mutations can generate both autosomal recessive and progressive autosomal dominant hearing loss (DFNB53 and DFNA13), respectively [8].

Other Considerations:

• Environmental Factors: Prenatal or perinatal infections, exposure to ototoxic substances, and other environmental factors may contribute to hearing impairment.
• Genetic Syndromes: Certain genetic syndromes, such as Usher syndrome, can also present with hearing loss.

Differential Diagnosis:

The differential diagnosis for ARNSD35 includes:

• GJB2-related autosomal recessive nonsyndromic hearing loss (ARNSHL)
• ESRRB-related autosomal recessive nonsyndromic hearing impairment (DFNB35)
• COL11A2-related autosomal recessive and progressive autosomal dominant hearing loss (DFNB53 and DFNA13, respectively)

References:

[1] Duman et al. (2008) - Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

[2] GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL).

[3] Autosomal recessive nonsyndromic deafness was noted to frequently have manifestation before speech development (prelingual deafness).

[4] Deafness, autosomal recessive 35 is a form of non-syndromic deafness characterized by severe to profound hearing loss.

[5] Non-syndromic hearing loss (NSHL) generally follows simple Mendelian inheritance and is predominantly transmitted as an autosomal recessive trait (75–80%).

[6] Autosomal recessive nonsyndromic deafness, on the other hand, is congenital or prelingual, and most of the time it leads to severe hearing loss.

[7] A frameshift mutation in the GJB2 gene was heterozygous.

[8] COL11A2 mutations can generate both autosomal recessive and progressive autosomal dominant HL (DFNB53 and DFNA13).

[9] Hereditary hearing loss can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner, as well as by environmental factors.

[10] Genetic and autosomal recessive nonsyndromic sensorineural hearing loss (ARNSNHL) is responsible for 80% of the genetic causes.