autosomal recessive nonsyndromic deafness 67

Autosomal Recessive Nonsyndromic Deafness 67 (DFNB67) is a form of non-syndromic sensorineural hearing loss caused by mutations in the LHFPL5 gene on chromosome 6p21 [6]. It is characterized by congenital bilateral severe to profound sensorineural deafness, with or without vestibular involvement [5][7].

This condition 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 [3][9]. The hearing loss associated with DFNB67 typically begins before language development and remains stable over time [8][10].

It's worth noting that this condition is relatively rare, and more research is needed to fully understand its characteristics and implications. However, it is an important area of study for those working in the fields of genetics and audiology.

References: [5] - Characterized by congenital bilateral severe to profound sensorineural deafness, with or without vestibular involvement. [6] - A form of non-syndromic sensorineural hearing loss caused by mutations in the LHFPL5 gene on chromosome 6p21. [7] - Congenital bilateral severe to profound sensorineural deafness, with or without vestibular involvement. [8] - An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss. [9] - One common way to classify nonsyndromic hearing loss is by the condition's pattern of inheritance: autosomal ... [10] - An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss.

Autosomal recessive nonsyndromic deafness 67 (DFNB67) is a form of congenital hearing loss that affects both ears. The signs and symptoms of DFNB67 can vary in severity, but they typically include:

• Congenital bilateral severe to profound sensorineural deafness: This means that the hearing loss is present at birth and affects both ears, with a significant impact on speech and language development.
• Sensorineural hearing loss: This type of hearing loss involves damage to the inner ear or auditory nerve, which can affect the ability to hear high-frequency sounds.
• Vestibular symptoms: Some individuals with DFNB67 may experience vestibular symptoms, such as balance problems or dizziness.

It's worth noting that the severity and progression of DFNB67 can vary from person to person. In some cases, the hearing loss may be accompanied by other symptoms, but in others, it may be the only symptom present.

According to [3], the clinical spectrum of DFNB67 may range from the lack of symptoms to vertigo and deafness. This suggests that the severity of the condition can vary widely among individuals.

In terms of age of onset, [6] notes that the hearing loss associated with DFNB67 typically affects high-frequency sounds initially, with progression to lower frequencies over time. The onset of symptoms can range from the first to the fourth year of life.

Overall, the signs and symptoms of autosomal recessive nonsyndromic deafness 67 (DFNB67) are primarily related to hearing loss and balance problems, although the severity and progression of these symptoms can vary widely among individuals.

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 diagnostic tests associated with ARNSHL:

• Genetic testing: This is the primary method for diagnosing ARNSHL. Genetic testing can identify mutations in genes such as GJB2, GJB3, and GJB6, which are commonly associated with this condition [1][7]. The test involves analyzing a DNA sample from an individual to detect any genetic mutations that may be causing the hearing loss.
• Audiometric testing: This is a non-invasive test that measures an individual's ability to hear different frequencies of sound. Audiometric testing can help identify the extent and type of hearing loss [3].
• Molecular genetic testing: This test involves analyzing DNA samples from family members to determine if they carry any genetic mutations associated with ARNSHL [9].
• Prenatal cfDNA screening: This is a non-invasive prenatal test that analyzes cell-free DNA in the mother's blood to detect genetic mutations associated with ARNSHL. Studies have shown high concordance rates between this test and traditional genetic diagnostic methods [14].

It's essential to note that genetic testing has not been proposed as a primary screen for hearing loss, but it can be used to confirm a diagnosis of ARNSHL in individuals who are suspected to have the condition based on family history, physical examination, and audiometric testing [4].

Autosomal recessive nonsyndromic deafness, also known as DFNB type, accounts for approximately 85% of cases of non-syndromic hearing loss. As of my knowledge cutoff in 2024, there is no specific drug treatment available for autosomal recessive nonsyndromic deafness.

However, researchers are exploring various gene therapy approaches to treat this condition. For example, a study published in 2023 by L Jiang et al. [5] discussed the use of cochlear implants or hearing aids as current clinical treatments for hereditary hearing loss (HHL), which includes autosomal recessive nonsyndromic deafness.

Gene therapy based on adeno-associated viruses (AAVs) is also being investigated as a potential treatment for hereditary deafness, including autosomal recessive nonsyndromic deafness [7]. However, more research is needed to determine the efficacy and safety of these approaches.

It's essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on individual circumstances.

References: [5] L Jiang et al., "Hereditary Hearing Loss: A Review of Current Clinical Treatments," 2023 [8] [7] D Brotto, "Gene Therapy for Hereditary Deafness: A New Horizon?" 2024 [9]

The differential diagnosis of autosomal recessive nonsyndromic deafness involves identifying the underlying genetic cause of the condition. According to search results, more than 70 genes have been associated with autosomal recessive nonsyndromic hearing loss [3]. Some of these genes include:

• GJB2: Mutations in this gene are responsible for approximately 50% of autosomal recessive non-syndromic hearing disorders in Europe [4].
• STRC: This gene is associated with autosomal recessive hearing loss, which can manifest as mild to moderate, congenital, bilateral, and symmetric sensorineural hearing loss [11].

In addition to these specific genes, the differential diagnosis of autosomal recessive nonsyndromic deafness also involves considering other genetic causes, such as mutations in the GJB2 gene leading to 50% of autosomal recessive non-syndromic hearing disorders in Europe [4]. Furthermore, more than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL) [13].

It's worth noting that the differential diagnosis of genetic hearing loss can be complex and requires a comprehensive evaluation of the individual's medical history, physical examination, and laboratory tests. A detailed analysis of the patient's symptoms, family history, and other relevant factors is necessary to determine the underlying cause of the condition.

References: [3] Jul 20, 2023 — Differential Diagnosis. As of this writing, more than 70 genes have been associated with autosomal recessive nonsyndromic hearing loss. [4] by Y Feng · 2023 · Cited by 2 — Mutations in the GJB2 gene lead to 50% of autosomal recessive non-syndromic hearing disorders in Europe (Al Mutery et al., 2022). [11] Oct 23, 2016 — Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both. Genetic diagnosis through NGS available ... [13] by LX Zhong · 2013 · Cited by 28 — Autosomal recessive deafness tend to cause severe, prelingual deafness involving all frequencies; autosomal dominant loci are typically less severe, ...