autosomal recessive nonsyndromic deafness 61

Autosomal Recessive Nonsyndromic Deafness 61 (DFNB61)

Autosomal recessive nonsyndromic deafness 61, also known as DFNB61, is a form of non-syndromic sensorineural hearing loss caused by mutations in the SLC26A5 gene on chromosome 7q22 [1]. This condition is characterized by prelingual onset with severe to profound, stable hearing loss [2][3].

Key Features:

• Prelingual deafness: Hearing loss occurs before speech development [4].
• Severe to profound hearing loss: Individuals experience significant hearing impairment in one or both ears [5].
• Stable hearing loss: The condition is characterized by a stable level of hearing loss over time [6].

Causes:

• SLC26A5 gene mutations: Mutations in the SLC26A5 gene are responsible for this form of autosomal recessive nonsyndromic deafness [7][8].

Overall, autosomal recessive nonsyndromic deafness 61 is a genetic condition that affects hearing and is caused by specific mutations in the SLC26A5 gene.

References: [1] - Context result 2 [2] - Context result 4 [3] - Context result 10 [4] - Context result 8 [5] - Context result 5 [6] - Context result 9 [7] - Context result 7 [8] - Context result 3

Autosomal recessive nonsyndromic deafness 61 (DFNB61) is a genetic condition that affects hearing, but it does not have any other associated signs or symptoms. This means that individuals with DFNB61 typically do not experience any additional health issues beyond the hearing loss.

The primary symptom of DFNB61 is prelingual onset severe to profound hearing loss, which means that the hearing loss occurs before a person can develop language skills (i.e., before they learn to speak). The hearing loss is usually stable and does not change over time.

It's worth noting that the term "nonsyndromic" in DFNB61 indicates that this condition is not associated with any other signs or symptoms, unlike syndromic conditions which often have multiple health issues. However, it's essential to consult a medical professional for an accurate diagnosis and guidance on managing hearing loss.

• The primary symptom of DFNB61 is prelingual onset severe to profound hearing loss [5][6].
• This condition does not have any other associated signs or symptoms beyond the hearing loss [1][9].
• The hearing loss in DFNB61 is usually stable and does not change over time [5][6].

Autosomal Recessive Nonsyndromic Deafness 61, also known as DFNB1A, is a genetic disorder that affects hearing. The diagnostic tests for this condition are crucial in identifying the underlying cause of the deafness.

Diagnostic Yield According to search results [2], the overall diagnostic yield for autosomal recessive nonsyndromic deafness 61 was 30.70% (39 solved cases/127 cases). This indicates that a significant number of cases can be attributed to this specific genetic condition.

Targeted Familial Variant Testing The highest diagnostic yield per test was achieved by targeted familial variant testing, which reached 60% (3/5 cases) [2]. This suggests that focusing on specific variants within families can lead to more accurate diagnoses.

SLC26A5 Gene Testing This test provides full coverage of all coding exons of the SLC26A5 gene plus 10 bases of flanking noncoding DNA in all available transcripts [3]. The SLC26A5 gene is associated with autosomal recessive nonsyndromic hearing loss, making this test a relevant diagnostic tool.

Genetic Testing Centers Several genetic testing centers offer diagnostic tests for autosomal recessive nonsyndromic deafness 61. These include the Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital [14].

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Current Therapies for Autosomal Recessive Nonsyndromic Deafness

Unfortunately, there are no biological therapies currently available to treat autosomal recessive nonsyndromic deafness. The current treatment options for this condition are limited to:

• Hearing aids: These can be fitted between the ages of 10 and 40 to assist with sound amplification [3].
• Cochlear implants: These can also be used to restore hearing in individuals with severe or profound hearing loss [6].

It's worth noting that gene therapy is an area of active research, and several preclinical studies have investigated its potential to rescue hearing loss in mouse models with mutations in TMC1 (DFNB7 and DFNB11) [7]. However, these findings are still preliminary and require further investigation.

Gene Therapy for Autosomal Recessive Nonsyndromic Deafness

Recent research has shown that gene therapy may hold promise for treating autosomal recessive nonsyndromic deafness. A study published in 2024 found that AAV1-hOTOF binaural gene therapy was feasible, safe, and efficacious for patients with DFNB9 [2]. This suggests that gene therapy may be a potential treatment option for this condition in the future.

Consultation with a Healthcare Professional

It's essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance on the best course of action for individuals with autosomal recessive nonsyndromic deafness [9].

References:

[1] Not available (no relevant information found)

[2] by H Wang · 2024 · Cited by 11

[3] by RJH Smith · 2018 · Cited by 18

[6] Aug 31, 2022

[7] by D Brotto · 2024

[9] Please consult with a healthcare professional for medical advice and treatment.

Autosomal recessive nonsyndromic deafness (ARNSHL) is a genetic disorder that affects hearing, and it can be challenging to diagnose due to its similarity with other conditions. However, there are some key factors that can help in the differential diagnosis of ARNSHL.

Key Diagnostic Features:

• Family History: A family history of hearing loss, particularly among siblings or parents, is a crucial factor in diagnosing ARNSHL [1].
• Age of Onset: The age at which hearing loss occurs can also be indicative. In most cases, ARNSHL manifests before speech development (prelingual deafness) [4].
• Type of Hearing Loss: Autosomal recessive nonsyndromic deafness typically presents as a severe-to-profound sensorineural hearing loss [2].

Differential Diagnosis:

• Autosomal Dominant Deafness: This condition can also present with prelingual deafness, but it is less common than ARNSHL. Autosomal dominant deafness-3A, caused by mutations in the GJB6 gene, is an allelic disorder that can be confused with ARNSHL [7].
• Syndromic Hearing Loss: This type of hearing loss occurs as part of a broader syndrome and can involve additional phenotypic features. Syndromic hearing loss accounts for approximately 30% of all genetic hearing losses [9].

Genetic Testing:

• GJB2 Gene Mutations: The GJB2 gene is the most common cause of ARNSHL, accounting for more than 50% of cases [2].
• Other Genes Involved: Other genes, such as COL11A2 and TECTA, can also be involved in autosomal recessive nonsyndromic deafness [5][10].

In conclusion, the differential diagnosis of autosomal recessive nonsyndromic deafness involves a combination of clinical evaluation, family history, age of onset, type of hearing loss, and genetic testing. A thorough understanding of these factors is essential for accurate diagnosis and management.

References: [1] Duman (cited by 176) - To date, more than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL). [2] GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital (present at birth) severe-to-profound ... [4] Autosomal recessive nonsyndromic deafness was noted to frequently have manifestation before speech development (prelingual deafness). A major gene to be ... [5] Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. ... 61, 124– ... [7] Autosomal dominant deafness-3A is an allelic disorder, and there is a related condition, DFNB1B, caused by mutations in the GJB6 gene on the same chromosome. [9] by BS Budde · 2020 · Cited by 25 — Genetic hearing loss can either occur as an isolated condition (nonsyndromic, 70%) or with additional phenotypic features (syndromic, 30%). [10] by M Aldè · 2023 · Cited by 31 — Autosomal dominant non-syndromic sensorineural deafness 8/12 (DFNA8/12) is caused by heterozygous mutations in the TECTA gene on chromosome 11q23 [11]. Missense ...