autosomal recessive nonsyndromic deafness 83

Autosomal Recessive Nonsyndromic Deafness 83 (DFNB83) is a genetic condition characterized by non-syndromic deafness, which means it affects hearing without any other associated symptoms or syndromes.

• Cause: This type of deafness is caused by variations in the chromosome region 9p23-p21.2 [3][4].
• Inheritance: It is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition [1][5].
• Hearing Loss: The hearing loss associated with DFNB83 is typically sensorineural and can be either congenital or infantile onset, i.e., before the acquisition of speech [1].

It's worth noting that there are other forms of autosomal recessive nonsyndromic deafness, such as Deafness, autosomal recessive 8 (DFNA8), which is caused by mutations in the TMPRSS3 gene on chromosome 21q22 [6]. However, DFNB83 is specifically characterized by variations in the chromosome region 9p23-p21.2.

References: [1] - Context result 1 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5

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 can vary in severity and may include:

• Mild to moderate hearing loss: This is the most common presentation of autosomal recessive nonsyndromic deafness, where individuals have difficulty understanding soft speech or have some degree of hearing impairment ([5][6]).
• Bilateral involvement: Hearing loss in both ears is a characteristic feature of autosomal recessive nonsyndromic deafness ([3][5]).
• Prelingual onset: The hearing loss typically occurs before the individual learns to speak, which means they may not have any speech or language development ([5][7]).
• Sensorineural hearing loss: Autosomal recessive nonsyndromic deafness is a type of sensorineural hearing loss, where there is damage to the inner ear or the auditory nerve ([5]).

It's worth noting that autosomal recessive nonsyndromic deafness can be inherited in an autosomal recessive pattern, which means that both parents must be carriers of the mutated gene for their child to have a 25% chance of inheriting the condition ([2][6]).

Autosomal Recessive Nonsyndromic Deafness (ARNSD) is a genetic disorder that affects hearing, and diagnostic tests play a crucial role in its identification. Here are some key points related to the diagnostic tests for ARNSD:

• Genetic testing: Molecular genetic testing is available for many types of syndromic and nonsyndromic deafness, including ARNSD [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 in many world populations. Testing for mutations in this gene can help establish a diagnosis of ARNSD [10].
• Parental carrier testing: If there's a family history of ARNSD, parental carrier testing should be offered to confirm that parents are carriers and that the risk of passing on the condition is understood.
• Newborn hearing screening (NBHS): In countries where available, NBHS typically identifies severe-to-profound hearing loss. This can help identify cases of ARNSD early in life.

It's essential to note that a diagnosis of ARNSD should be established by a qualified healthcare professional based on a combination of clinical findings and genetic testing results.

References:

[9] RJH Smith · Cited by 240 — Diagnosis/testing. Molecular genetic testing, available in clinical laboratories for many types of syndromic and nonsyndromic deafness, plays a crucial role in the diagnosis of ARNSD. [10] 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.

Autosomal Recessive Nonsyndromic Deafness (ARNSHL) is a genetic disorder that affects hearing, and it is caused by mutations in one of the 42 genes responsible for hearing. As of now, there are no biological therapies available to treat ARNSHL.

However, researchers have been exploring gene therapy as a potential treatment option for this condition. Gene therapy involves using adeno-associated virus-derived vectors carrying an additional normal gene or using ribozymes to modify the genome. Experimental studies have demonstrated improvements in hearing following a single local injection of these vectors (4, 10, 12).

Additionally, a recent study published in Molecular Therapy Nucleic Acids has shown the efficacy of tissue-specific gene therapy in a model of autosomal recessive hearing loss 9 (DFNB89), caused by a pathogenic mutation of the OTOF gene (13). This study suggests that gene therapy may offer curative effects and clinical benefit for individuals with ARNSHL.

It's essential to note that these findings are from preclinical studies, and more research is needed to confirm their efficacy in humans. Currently, treatment for ARNSHL is limited to hearing aids or cochlear implants (6).

References: (4) Experimental studies have demonstrated improvements in hearing following a single local injection of adeno-associated virus-derived vectors carrying an additional normal gene or using ribozymes to modify the genome. (10) Experimental studies have demonstrated improvements in hearing following a single local injection of adeno-associated virus-derived vectors carrying an additional normal gene or using ribozymes to modify the genome. (12) Experimental studies have demonstrated improvements in hearing following a single local injection of adeno-associated virus-derived vectors carrying an additional normal gene or using ribozymes to modify the genome. (13) A recent study published in Molecular Therapy Nucleic Acids has demonstrated the efficacy of a tissue-specific gene therapy in a model of autosomal recessive hearing loss 9 (DFNB89), caused by a pathogenic mutation of the OTOF gene.

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, and a differential diagnosis is often necessary to rule out other conditions that may present with similar symptoms. Here are some key points to consider:

• Other forms of hearing loss: ARNSHL must be differentiated from other forms of hearing loss, such as autosomal dominant nonsyndromic deafness (ADNSHL), X-linked recessive nonsyndromic deafness, and syndromic hearing loss.
• Genetic testing: Genetic testing is essential to confirm the diagnosis of ARNSHL. This can involve testing for mutations in genes such as GJB2, OTOF, and TMIE [1][3][7].
• Family history: A thorough family history is crucial to determine if there is a pattern of inheritance consistent with ARNSHL.
• Other medical conditions: Other medical conditions that may present with hearing loss, such as otosclerosis, Meniere's disease, or autoimmune disorders, must be ruled out through further testing and evaluation.

The Igenomix Syndromic and Nonsyndromic Deafness Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of ARNSHL [8].

References:

[1] Feng Y. Autosomal recessive nonsyndromic deafness. 2023.

[3] Zhong LX. TMIE mutation causes autosomal recessive prelingual deafness. 2013.

[7] Smith RJH. Hereditary hearing loss. Cited by 240.

[8] Igenomix Syndromic and Nonsyndromic Deafness Precision Panel.