autosomal recessive nonsyndromic deafness 15

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What is autosomal recessive deafness-15 (DFNB15)?

Autosomal recessive deafness-15 (DFNB15) is a form of sensorineural and nonsyndromic hearing loss with prelingual onset. It is caused by mutations in the GIPC3 gene on chromosome 16. This condition leads to early-onset, usually bilateral (but sometimes asymmetric) hearing loss with autosomal recessive transmission.

Autosomal recessive nonsyndromic deafness (ARNSHL) is a type of hearing loss that is not associated with other signs and symptoms, and is inherited in an autosomal recessive pattern. The signs and symptoms of ARNSHL can vary from person to person, but may include:

• Hearing loss: This is the primary symptom of ARNSHL, and can range from mild to profound.
• Prelingual onset: In most cases, the hearing loss associated with ARNSHL begins before a person learns to speak (prelingually).
• Sensorineural hearing loss: The type of hearing loss associated with ARNSHL is sensorineural, meaning that it affects the inner ear and the nerve pathways that transmit sound signals to the brain.

According to [8], individuals with nonsyndromic deafness have only symptoms of deafness. In most cases, the onset of non-syndromic deafness in patients with autosomal dominant inheritance is later than in those with autosomal recessive inheritance [8].

The clinical spectrum of ARNSHL may range from the lack of symptoms to vertigo and deafness [4]. However, it's worth noting that the severity and progression of hearing loss can vary significantly among individuals.

References: [4] - by MD Venkatesh · 2015 · Cited by 48 [8] - by Y Feng · 2023 · Cited by 1

Autosomal Recessive Nonsyndromic Deafness (ARNSD) can be diagnosed through various clinical and molecular tests.

• Molecular genetic testing: This is a crucial diagnostic tool for ARNSD, as it can identify mutations in the genes responsible for the condition. According to [9], molecular genetic testing plays a significant role in diagnosing many types of syndromic and nonsyndromic deafness.
• Whole-exome sequencing: This test efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss, as mentioned in [4].
• Gene panel testing: A 138 gene panel that includes assessment of non-coding variants can be used to diagnose ARNSD. This panel also includes the maternally inherited mitochondrial genome, as stated in [6].
• CT scan: In cases where ARNSD is associated with malformations of the inner ear, a CT scan can detect these abnormalities, as mentioned in [8].

It's essential to note that diagnosis of ARNSD requires an evaluation by appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, and other relevant fields, as stated in [5].

Autosomal recessive nonsyndromic deafness, also known as DFNB, is a type of hearing loss 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.

Current Treatment Options:

While there are no specific drug treatments available for autosomal recessive nonsyndromic deafness, researchers have been exploring various therapeutic approaches to address this condition. Some potential treatment options being investigated include:

• Gene therapy: This involves using a virus to deliver a healthy copy of the gene to the affected cells in the ear. Gene therapy has shown promise in clinical trials for treating autosomal recessive deafness (DFNB9), with patients experiencing hearing improvement without adverse reactions [5-13].
• Cochlear implants: These are medical devices that can bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing individuals to perceive sound. Cochlear implants have been shown to be effective in restoring some level of hearing in individuals with severe-to-profound hearing loss [5].

Future Directions:

Researchers continue to explore new therapeutic approaches for autosomal recessive nonsyndromic deafness. These include:

• Stem cell therapy: This involves using stem cells to regenerate or repair damaged tissue in the ear.
• Small molecule therapies: Researchers are investigating small molecules that can target specific molecular pathways involved in hearing loss.

Important Considerations:

It's essential to note that these treatment options are still in the experimental stages, and more research is needed to fully understand their efficacy and potential risks. Individuals with autosomal recessive nonsyndromic deafness should consult with a healthcare professional for personalized advice and guidance on available treatment options.

References:

• [15] Nonsyndromic hearing loss may be transmitted as an autosomal recessive (~80%), autosomal dominant (~15%), or X-linked

Autosomal recessive nonsyndromic deafness 15 (DFNB3) is a form of sensorineural hearing loss caused by mutations in the MYO15A gene. To determine if this condition is present, it's essential to consider other possible causes of autosomal recessive nonsyndromic deafness.

Differential Diagnosis:

• SLC26A4-related deafness: This form of autosomal recessive deafness is caused by mutations in the SLC26A4 gene and can be associated with Pendred syndrome. It's a mixed type of autosomal recessive deafness, usually nonsyndromal, accounting for about 12% of AR cases [9].
• Autosomal dominant non-syndromic sensorineural deafness 15 (DFNA15): This condition is caused by heterozygous mutations in the POU4F3 gene on chromosome 5q32. It's essential to rule out this possibility, especially if there are family history or other genetic factors involved [6].
• Autosomal recessive hearing impairment: This form of deafness is also known as DFNB3 and is caused by mutations in the MYO15A gene. However, it's crucial to confirm that the condition is not related to other genetic factors or syndromes.
• Other forms of autosomal recessive nonsyndromic deafness: There are several other genes associated with autosomal recessive nonsyndromic deafness, including GIPC3 and STRC. These conditions should be ruled out through genetic testing and clinical evaluation.

Key Considerations:

• Family history and genetic counseling can help determine the likelihood of an autosomal recessive inheritance pattern.
• Clinical evaluation and hearing tests are essential to confirm the presence of nonsyndromic deafness.
• Genetic testing for specific genes, such as MYO15A, SLC26A4, POU4F3, GIPC3, and STRC, can help determine the underlying cause of the condition.

References:

[6] Aldè M. (2023). Autosomal dominant non-syndromic sensorineural deafness 15 (DFNA15) is caused by heterozygous mutations in the POU4F3 gene on chromosome 5q32 [11]. [9] SLC26A4-related deafness, Pendred syndrome. [8] Feng Y. (2023). Autosomal recessive hearing impairment, known as DFNB3, is caused by mutations in the MYO15A gene. [10] About 80% are linked to autosomal recessive inheritance, 15% to autosomal dominant inheritance, 1-3% through the X chromosome, and 0.5-1% are associated with other forms of nonsyndromic deafness.