autosomal recessive nonsyndromic deafness 70

Autosomal Recessive Nonsyndromic Deafness-70 (DFNB70) is a neurologic disorder characterized by isolated congenital sensorineural hearing loss [1]. The condition presents with a variable disease course, and all individuals affected by it have this type of hearing loss from birth [2][3].

The inheritance pattern of DFNB70 is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition [4]. This contrasts with autosomal dominant forms, which are characterized by early onset and bilateral hearing loss with varying degrees of severity [7].

In terms of inheritance, affected individuals have a 25% chance of passing the condition on to each of their children, as they must inherit two copies of the mutated gene [8].

Autosomal recessive nonsyndromic deafness, also known as non-syndromic hearing loss, is a type of hearing impairment that occurs without any other symptoms or signs. The following are some common characteristics and features associated with autosomal recessive nonsyndromic deafness:

• Early-onset hearing loss: Hearing loss typically begins in childhood, often between the ages of 5-15 years [1].
• Bilateral hearing loss: Hearing loss is usually bilateral (affecting both ears), but can be asymmetric, meaning one ear may be more affected than the other [2].
• Progressive hearing loss: The hearing loss tends to progress over time, with some individuals experiencing a gradual decline in their ability to hear high-frequency sounds [3].
• Variable severity: The severity of the hearing loss can vary significantly from person to person, even within the same family [4].
• No other symptoms: Unlike syndromic hearing loss, autosomal recessive nonsyndromic deafness is not associated with any other signs or symptoms, such as vision problems, developmental delays, or physical abnormalities.

It's essential to note that these characteristics can vary from person to person and may not be present in every individual with autosomal recessive nonsyndromic deafness. If you suspect you or a family member may have this condition, consult a healthcare professional for proper evaluation and diagnosis.

Autosomal Recessive Nonsyndromic Deafness (ARNSHL) is a type of hearing loss that 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.

Diagnostic Tests for ARNSHL

Several diagnostic tests are available to identify the genetic cause of ARNSHL. These include:

• Genetic testing: This involves analyzing DNA samples from individuals with suspected ARNSHL to identify mutations in genes associated with the condition, such as GJB2 and GJB6 [1, 6].
• Newborn hearing screening (NBHS): NBHS is a universal screening program that identifies severe-to-profound hearing loss in newborns. In countries where available, NBHS can also detect ARNSHL [2, 3].
• Genetic testing for mitochondrial genome: This test is ideal for patients with a clinical suspicion of unilateral or bilateral non-syndromic hearing loss, including those with suspected ARNSHL [4].

Purpose of Genetic Testing

The purpose of genetic testing in individuals with suspected hereditary non-syndromic hearing loss (NSHL) is to establish the diagnosis of a specific genetic cause of their hearing loss. This can help guide treatment decisions and provide families with important information about the risk of passing on the condition [5].

References:

[1] Feb 1, 2016 — About half of all severe-to-profound autosomal recessive nonsyndromic hearing loss results from mutations in the GJB2 gene; these cases are ...

[2] Jul 20, 2023 — In countries where available, newborn hearing screening (NBHS) typically identifies severe-to-profound hearing loss. GJB2-AR NSHL can also be ...

[3] In countries where available, newborn hearing screening (NBHS) typically identifies severe-to-profound hearing loss. ... GTR is not a substitute for medical ...

[4] Nov 13, 2023 — Is ideal for patients with a clinical suspicion of unilateral or bilateral non-syndromic hearing loss. Also includes mitochondrial genome ...

[5] 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 ...

[6] There are two important genomic testing points to remember: different variants in the same gene can cause different forms of hearing loss – for example, GJB6 ...

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 drugs that can cure this condition, researchers have been exploring various treatment options to manage its symptoms.

Current Treatment Options:

• Cochlear Implants: These devices can bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing individuals with NSHL to perceive sound. [1]
• Hearing Aids: Amplifying sounds through hearing aids can be beneficial for some individuals with NSHL, especially in cases where the hearing loss is not severe. [2]
• Gene Therapy: Researchers have been investigating gene therapy as a potential treatment option for autosomal recessive nonsyndromic deafness. This involves using viruses to deliver healthy copies of the mutated gene to the inner ear. [3]

Emerging Therapies:

• Stem Cell Therapy: Some studies suggest that stem cell therapy may have potential in treating NSHL by promoting the growth and differentiation of auditory hair cells. [4]
• Small Molecule Therapeutics: Researchers are also exploring small molecule therapeutics, such as those targeting the TRIOBP gene, which is associated with autosomal recessive nonsyndromic deafness. [5]

Important Note:

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual circumstances.

References:

[1] Wang et al. (2024) - Gene therapy is a promising approach for hereditary deafness. [2] Jiang et al. (2023) - Current clinical treatments for HHL are cochlear implants or hearing aids. [3] Brotto et al. (2024) - Gene therapy based on AAVs is rapidly becoming a new method for the treatment of hereditary deafness. [4] Wang et al. (2024) - Stem cell therapy may have potential in treating NSHL by promoting the growth and differentiation of auditory hair cells. [5] Jiang et al. (2023) - More than 150 deafness genes have been recognized to be associated with HHL, including TRIOBP.

Autosomal Recessive Nonsyndromic Deafness 70 (DFNB70) is a neurologic disorder with a variable disease course, characterized by isolated congenital sensorineural hearing loss [1]. When considering the differential diagnosis for DFNB70, it's essential to rule out other conditions that may present with similar symptoms.

Other forms of autosomal recessive nonsyndromic deafness:

• Mutations in the STRC gene are a common cause of moderate autosomal recessive nonsyndromic