autosomal recessive nonsyndromic deafness 42

Autosomal Recessive Nonsyndromic Deafness 42 (ARNSD42) is a form 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 develop the condition.

Causes and Genetics

ARNSD42 is caused by mutations in the ILDR1 gene (609739) on chromosome 3q13 [4]. The ILDR1 gene plays a crucial role in the development and function of the inner ear. Mutations in this gene can lead to non-syndromic sensorineural hearing loss, which means that the hearing loss is not associated with any other symptoms or syndromes.

Clinical Features

The clinical features of ARNSD42 include:

• Prelingual nonprogressive nonsyndromic form of sensorineural hearing loss [4]
• Hearing loss that is present at birth and does not worsen over time
• Sensorineural hearing loss, which affects the inner ear's ability to transmit sound signals to the brain

Prevalence and Diagnosis

ARNSD42 is a relatively rare condition. The prevalence of non-syndromic deafness in general is estimated to be around 1 in 1000 newborn children [8]. ARNSD42 can be diagnosed through genetic testing, which involves analyzing the ILDR1 gene for mutations.

Treatment and Management

There is no cure for ARNSD42. However, hearing aids or cochlear implants can help improve communication skills and overall quality of life for individuals with this condition.

References:

[4] Aslam et al. (2005) reported a consanguineous Pakistani family in which 5 members, including 4 sibs, had prelingual nonprogressive nonsyndromic sensorineural hearing loss due to mutations in the ILDR1 gene. [8] The prevalence of non-syndromic deafness is estimated to be around 1 in 1000 newborn children.

Autosomal recessive nonsyndromic deafness 42 (DFNB42) is a genetic condition that affects hearing. According to the available information, this condition is caused by a homozygous mutation in the ILDR1 gene.

The signs and symptoms of autosomal recessive nonsyndromic deafness 42 are not explicitly mentioned in the provided context. However, we can infer some general information about the condition:

• Hearing Loss: Autosomal recessive nonsyndromic deafness 42 is characterized by a partial or total loss of hearing that is not associated with other pathologies.
• Genetic Inheritance: The condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations.

It's worth noting that the provided context does not explicitly mention signs and symptoms specific to DFNB42. However, it does provide general information about nonsyndromic hearing loss and its inheritance patterns.

If you're looking for more detailed information on the signs and symptoms of autosomal recessive nonsyndromic deafness 42, I recommend consulting a medical professional or a reliable health resource.

References: * [1] - Autosomal recessive nonsyndromic deafness is characterized by prelingual onset with usually stable hearing loss. * [4] - Autosomal recessive deafness-42 (DFNB42) is caused by homozygous mutation in the ILDR1 gene.

Based on the provided context, here are some diagnostic tests and genetic factors associated with autosomal recessive nonsyndromic deafness:

Common Genetic Causes

• GJB2 gene mutations: These account for about half of all severe-to-profound autosomal recessive nonsyndromic hearing loss cases [1].
• Other genes implicated in autosomal recessive nonsyndromic hearing loss include GJB6, SLC26A4, and OTOF [12].

Diagnostic Tests

• Molecular genetic testing: This is available for many types of syndromic and nonsyndromic deafness, including autosomal recessive nonsyndromic deafness [9].
• Genetic testing can identify mutations in genes such as GJB2, GJB6, SLC26A4, and OTOF [13].

Genetic Testing Points

• Different variants in the same gene can cause different forms of hearing loss (e.g., GJB6) [6].
• It's essential to remember that genetic testing may not always identify the underlying cause of hearing loss.

Prevalence and Inheritance Patterns

• Nonsyndromic hearing loss accounts for about 70% of all genetic hearing loss cases, with an estimated prevalence of 1–3 in every 1000 newborns [14].
• Autosomal recessive nonsyndromic deafness is inherited as an autosomal recessive disorder, accounting for about 80% of all genetic causes of hearing loss [12].

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 ...

[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 ...

[9] by RJH Smith · Cited by 241 — Diagnosis/testing.​​ Molecular genetic testing, available in clinical laboratories for many types of syndromic and nonsyndromic deafness, plays a ...

[12] Most prelingual nonsyndromic hearing loss is inherited as an autosomal recessive disorder, accounting for about 80% of all genetic causes of hearing loss. To date, 42 different genes have been implicated in autosomal recessive nonsyndromic hearing loss [Duman et al 2012].

[13] In diagnostic tests, genes that are common causes of hearing loss, such as GJB2, GJB6, SLC26A4, and OTOF, ... Bork J. M., Peters L. M., Riazuddin S., et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. The American Journal of Human Genetics. 2001;68 ...

[14] Hearing loss is one of the most common birth defects in humans, with an estimated prevalence of 1–3 in every 1000 newborns [14]. Seventy percent of hearing loss cases are nonsyndromic, and one of ...

Based on the provided context, it appears that there are limited treatment options available for autosomal recessive nonsyndromic deafness.

• Currently, no specific drug treatment is available for autosomal recessive nonsyndromic deafness [1].
• Cochlear implants or hearing aids may be used as a treatment option for some forms of conductive hearing loss, but this may not be effective for all cases of autosomal recessive nonsyndromic deafness [6].
• Gene therapy is being researched as a potential treatment approach for hereditary deafness, including autosomal recessive nonsyndromic deafness [2][7].

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

References: [1] - Result 9 [6] - Result 6 [2] - Result 2 [7] - Result 7

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, as it often presents with severe-to-profound hearing loss without any other associated syndromic features. However, there are some key points to consider when making a differential diagnosis:

• Genetic heterogeneity: ARNSHL is caused by mutations in one of 42 genes, and more than 700 different mutations have been identified [14]. This means that the genetic cause of hearing loss can vary widely between individuals.
• Prelingual and severe-to-profound hearing loss: In general, ARNSHL presents with prelingual (present at birth) and severe-to-profound hearing loss. However, there is a spectrum of degrees of hearing loss, and exceptions to this generalization are possible [13].
• GJB2-related ARNSHL: 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 [10, 12]. This condition is often associated with mutations in the GJB2 gene.
• STRC-related ARNSHL: STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2 [11]. This condition is often associated with mutations in the STRC gene.

When making a differential diagnosis of ARNSHL, it's essential to consider these factors and to rule out other potential causes of hearing loss. A comprehensive genetic evaluation, including next-generation sequencing (NGS), can help identify the underlying cause of hearing loss and guide treatment decisions [8].