autosomal recessive nonsyndromic deafness 31

Autosomal Recessive Nonsyndromic Deafness 31 (DFNB31) is a type of hearing impairment that affects one or both ears, characterized by an abnormal functionality of the cochlear nerve [1]. It is a partial or total loss of hearing that is not associated with other signs and symptoms [2].

This condition is caused by mutations in the WHRN gene on chromosome 9q32 [4]. The WHRN gene plays a crucial role in the development and maintenance of the inner ear, and mutations in this gene can lead to hearing loss.

DFNB31 is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition [9]. The condition typically presents with prelingual onset, meaning that it occurs before a person learns to speak [4].

In affected individuals, hearing loss can range from mild to profound and may be accompanied by other symptoms such as tinnitus or balance problems. However, in some cases, hearing loss may be the only symptom

Autosomal recessive nonsyndromic deafness 31 (DFNB31) is a genetic condition that affects hearing. According to the available information, this condition is caused by a homozygous mutation in an unknown gene.

The characteristics of autosomal recessive

Autosomal recessive nonsyndromic deafness 31, also known as WHRN-related hearing loss, is a genetic condition that affects the ability to hear. Diagnostic tests for this condition are crucial in identifying the underlying cause of the hearing impairment.

Available Genetic Tests

According to search results [1], Intergen offers clinical genetic testing for conditions including autosomal recessive nonsyndromic deafness 31. This test analyzes genes such as WHRN (9q32) to identify mutations that may be causing the condition.

Clinical Resources and Information

Search result [2] provides a clinical resource with information about autosomal recessive nonsyndromic hearing loss 31, including its clinical features and available genetic tests from the US. This resource can be useful in understanding the condition and identifying diagnostic tests.

Genetic Basis of Autosomal Recessive Nonsyndromic Deafness

Research [6] indicates that autosomal recessive nonsyndromic deafness is predominantly transmitted as an autosomal recessive trait (75-80%). This means that a mutation in one copy of the gene is sufficient to cause the condition. The WHRN gene on chromosome 9q32 has been identified as a key gene associated with this condition [8].

Diagnostic Tests for Autosomal Dominant Nonsyndromic Deafness

While autosomal recessive nonsyndromic deafness 31 is inherited in an autosomal recessive pattern, another form of nonsyndromic hearing loss (DFNA5) is inherited in an autosomal dominant pattern [9]. The gene responsible for this condition codes for connexin 31 and mutations result in an autosomal dominant inheritance pattern of nonsyndromic hearing loss.

ICD-9 Codes

Search results [10] provide ICD-9 codes related to diagnostic procedures on the larynx and trachea, which may be relevant in diagnosing and treating autosomal recessive nonsyndromic deafness 31.

In summary, diagnostic tests for autosomal recessive nonsyndromic deafness 31 include clinical genetic testing offered by Intergen, as well as other clinical resources and information available from the US. The condition is inherited in an autosomal recessive pattern, with mutations in genes such as WHRN being a key factor.

References: [1] Clinical Genetic Test offered by Intergen for conditions (1) [2] Clinical resource with information about Autosomal recessive nonsyndromic hearing loss 31 and its clinical features [6] Non-syndromic hearing loss is genetically ... Usher syndrome, type 2D, Deafness, autosomal recessive 31 ... [8] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has material basis in mutation in the WHRN gene on chromosome 9q32. [9] The gene codes for connexin 31 and mutations result in an autosomal dominant inheritance pattern of nonsyndromic hearing loss. While recent studies have ... [10] More specific diagnoses: 31.0 (ICD-9 code) | injection of larynx 31.1 (ICD-9 code) | temporary tracheostomy 31.2 (ICD-9 code) | permanent tracheostomy (2 subcategories)

Autosomal recessive nonsyndromic deafness, also known as connexin 31-related hearing loss, is a genetic disorder that affects the inner ear and leads to severe-to-profound hearing impairment. While there is no cure for this condition, researchers have been exploring various treatment options, including gene therapy.

Gene Therapy: A Promising Approach According to recent studies [5][6], gene therapy has shown promise in treating hereditary deafness. This approach involves using a virus (adeno-associated virus or AAV) to deliver a healthy copy of the GJB2 gene to the inner ear, thereby restoring hearing function.

Current Status: Experimental and Limited Availability While gene therapy holds promise, it is still an experimental treatment for autosomal recessive nonsyndromic deafness. Clinical trials are ongoing, but this approach is not yet widely available or approved for use in humans [5][6].

Other Treatment Options: None Available Unfortunately, there are no other established treatments for autosomal recessive nonsyndromic deafness beyond gene therapy. This condition is typically managed through hearing aids and cochlear implants to improve communication and quality of life.

Prevalence and Impact Autosomal recessive nonsyndromic deafness affects a significant portion of the population, with estimates suggesting that 60-80% of non-syndromic hearing loss cases are due to this condition [7]. The impact on individuals and families can be substantial, affecting communication, education, and overall well-being.

References:

• [5] Wang et al. (2024): Gene therapy for hereditary deafness using AAV1-hOTOF.
• [6] Brotto et al. (2024): Gene therapy for autosomal recessive nonsyndromic deafness using AAVs.
• [7] Feng et al. (2023): Prevalence and characteristics of non-syndromic hearing loss in a large cohort study.

Note: The above response is based on the provided context, which includes search results related to autosomal recessive nonsyndromic deafness.

Autosomal Recessive Nonsyndromic Deafness 31 (DFNB31) is a genetic disorder that affects hearing. The differential diagnosis for this condition involves identifying other possible causes of hearing loss that may present with similar symptoms.

According to the available information, DFNB31 is caused by homozygous mutation in an unknown gene [7]. However, it's essential to consider other potential causes of autosomal recessive nonsyndromic deafness when making a differential diagnosis.

Some possible causes of hearing loss that may be considered in the differential diagnosis for DFNB31 include:

• GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL), which is caused by mutations in the GJB2 gene and can account for up to 50% of autosomal recessive hearing loss [12].
• STRC-related autosomal recessive hearing loss, which involves both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2 [10].
• Other genetic causes of autosomal recessive nonsyndromic deafness, such as mutations in the GJB6 or SLC26A4 genes.

It's worth noting that a definitive diagnosis of DFNB31 can only be made through genetic testing. However, when making a differential diagnosis, it's essential to consider other possible causes of hearing loss and to rule out these conditions before arriving at a diagnosis.

References:

[7] A number sign (#) is used with this entry because of evidence that autosomal recessive nonsyndromic deafness-31 (DFNB31) is caused by homozygous mutation in an unknown gene. [10] 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. [12] In cases of non syndromic hearing loss, the most common mutation occurs in the Gap Junction Beta 2 gene (GJB2) which can account for up to 50% of autosomal recessive hearing loss and thus 20% of all congenital hearing loss.