autosomal dominant nonsyndromic deafness 31

Autosomal dominant nonsyndromic deafness 31 (ADND31) is a genetic condition characterized by nonsyndromic deafness, which means it is not associated with any other signs or symptoms. This form of deafness is caused by variations in the chromosome region 6p21.3.

According to search result [8], ADND31 is always inherited in an autosomal dominant manner, meaning that only one copy of the altered gene in each cell is sufficient to result in hearing loss. This means that if a parent has ADND31, there is a 50% chance that each child will inherit the condition.

ADND31 is a progressive form of deafness, which means that it can worsen over time. It typically affects individuals who have already developed language skills, as opposed to prelingual hearing loss, which occurs before language development [1].

It's worth noting that ADND31 is a rare form of nonsyndromic deafness, and more research is needed to fully understand its causes and effects.

References: [8] - This form of deafness is always ... For the autosomal dominant forms of deafness, mutations in the COCH gene result in progressive postlingual deafness associated with severe attacks of vertigo and subjective tinnitus.... [1] - Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. Explore symptoms, inheritance, genetics of this condition.

Autosomal dominant non-syndromic deafness (ADNSHL) typically presents with bilateral hearing loss, which is often post-lingual in onset, meaning it occurs after the development of language skills. The characteristics of ADNSHL are heterogeneous, but most cases involve:

• Bilateral hearing loss: Hearing loss affects both ears, and the degree of hearing impairment can vary between individuals.
• Post-lingual onset: Hearing loss typically occurs after the individual has developed language skills, which is usually around 5-10 years old.
• Variable age of onset: The age at which hearing loss begins can range from childhood to adulthood.

In some cases, ADNSHL may be associated with additional symptoms or signs, such as:

• Low-frequency hearing loss: Some individuals with ADNSHL may experience low-frequency hearing loss, particularly in the DFNA1 and DFNA6/14/38 conditions.
• Mid-frequency hearing loss: Another related condition, DFNA3B, is characterized by prelingual, high-frequency hearing loss.

It's essential to note that the symptoms of ADNSHL can vary significantly between individuals, even within the same family. A comprehensive medical evaluation and genetic testing are necessary for an accurate diagnosis and to rule out other potential causes of hearing loss.

References:

• [5] The characteristics of autosomal dominant non-syndromic HL are heterogenous. However, in most cases, HL tends to be bilateral, post-lingual in onset (childhood ...
• [7] Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), ...
• [9] Unusual phenotypes in autosomal dominant forms of deafness, include low frequency hearing loss in DFNA1 (HDIA1) and DFNA6/14/38 (WFS1), mid-frequency hearing ...

Autosomal dominant nonsyndromic deafness 31, also known as DFNA31, is a genetic disorder that affects hearing. Diagnostic tests for this condition typically involve genetic analysis to identify the underlying mutation.

• Genetic testing: This is the primary diagnostic test for DFNA31. Genetic testing involves analyzing DNA samples from an individual or their family members to identify mutations in the gene responsible for the condition (1). The most common genes associated with autosomal dominant nonsyndromic hearing loss, including DFNA31, are GJB2, GJB6, SLC26A4, and others (13).
• Gap junction protein analysis: Since DFNA31 is caused by mutations in gap junction proteins, such as connexin 31 (GJB3), diagnostic tests may also involve analyzing the expression or function of these proteins (14).

It's essential to note that genetic counseling should be provided before and after testing to ensure individuals understand their results and any implications for themselves and their family members (8, 9).

Autosomal dominant nonsyndromic deafness, also known as ADNSHL, is a genetic condition that affects hearing. While there are no specific "drugs" that can treat this condition, researchers have explored various treatments to manage its symptoms.

Current Treatment Options:

• Hearing Aids: For individuals with mild to moderate hearing loss, hearing aids can be an effective treatment option [5].
• Cochlear Implantation: In cases of severe-to-profound hearing loss, cochlear implantation may be considered as a viable rehabilitation option [5].

Emerging Therapies:

• Gene Therapy: Researchers are exploring gene therapy approaches to treat genetic hearing loss, including ADNSHL. However, these therapies are still in the experimental stages and not yet widely available [10].
• Stem Cell Therapy: Some studies have investigated the potential of stem cell therapy to repair or replace damaged auditory cells. While promising, more research is needed to confirm its efficacy [10].

Audioprofiling:

• Predicting Hearing Loss Rate: Audioprofiling can be used to predict the rate of hearing loss per year in individuals with ADNSHL [9]. This information can help guide treatment decisions and inform patients about their expected outcomes.

It's essential to note that each individual's experience with autosomal dominant nonsyndromic deafness is unique, and treatment plans should be tailored to their specific needs. Consultation with a healthcare professional or an audiologist is recommended for personalized guidance.

References: [5] by M Aldè · 2023 · Cited by 31 — For children with severe-to-profound HL, hearing aids may be insufficient for HL rehabilitation, and cochlear implantation should be considered. [9] by RJH Smith · Cited by 240 — Audioprofiling can be used to prognosticate the rate of hearing loss per year in an individual with autosomal dominant nonsyndromic hearing ... [10] by Y Feng · 2023 · Cited by 1 — Approaches to reversing or preventing genetic hearing loss are limited. Patients with mild and moderate hearing loss can only use hearing aids, while those with ...

Autosomal dominant nonsyndromic deafness (ADNSHL) refers to a group of hearing loss conditions that are inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the condition. Differential diagnosis for ADNSHL involves identifying the specific genetic mutations responsible for the condition.

Possible Causes:

• DFNB31: This is one possible cause of ADNSHL, which has been linked to the DFNB31 region on chromosome 5q35 (Tlili et al., [8]). Mutations in this region can lead to severe hearing loss.
• Other Genetic Mutations: Other genetic mutations, such as those affecting the connexin 31 gene (Cx31), can also cause ADNSHL ([9], [10]). These mutations result in an autosomal dominant inheritance pattern of nonsyndromic hearing loss.

Key Features:

• Autosomal Dominant Inheritance: ADNSHL is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the condition.
• Progressive Hearing Loss: The condition typically presents with progressive hearing loss, which can be severe and profound by the fourth decade of life ([2], [3]).
• Low-Frequency Hearing Loss: Some patients may experience low-frequency hearing loss, particularly in the first decade of life ([5]).

Differential Diagnosis:

When differentiating ADNSHL from other forms of nonsyndromic deafness, it is essential to consider the following:

• Autosomal Recessive Nonsyndromic Deafness: This condition typically presents with congenital or prelingual hearing loss and severe hearing impairment ([7]).
• Other Forms of ADNSHL: Other forms of ADNSHL, such as DFNA1, can present with mild thrombocytopenia and enlarged ears ([5]).

References:

[2] by M Aldè · 2023 · Cited by 30 — DFNA1 is due to mutations in the DIAPH1 gene on chromosome 5q31 and causes progressive low-frequency HL, resulting in a profound degree by the fourth decade of ...

[3] by M Aldè · 2023 · Cited by 31 — DFNA1 is due to mutations in the DIAPH1 gene on chromosome 5q31 and causes progressive low-frequency HL, resulting in a profound degree by the fourth decade of ...

[5] DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients have mild thrombocytopenia and enlarged ears.

[7] by Y Feng · 2023 · Cited by 1 — Autosomal recessive nonsyndromic deafness, on the other hand, is congenital or prelingual, and most of the time it leads to severe hearing loss (Sundstrom et al ...

[8] In affected members of a consanguineous Tunisian family with autosomal recessive nonsyndromic deafness showing linkage to the DFNB31 region, Tlili et al.

[9] by LX Zhong · 2013 · Cited by 28 — The gene codes for connexin 31 and mutations result in an autosomal dominant inheritance pattern of nonsyndromic hearing loss. While recent studies have ...

[10] by M Bitner-Glindzicz · 2002 · Cited by 373 — Unusual phenotypes in autosomal dominant forms of deafness, include low frequency hearing loss in DFNA1 (HDIA1) and DFNA6/14/38 (WFS1), mid-frequency hearing ...