autosomal dominant nonsyndromic deafness 13

Autosomal dominant nonsyndromic deafness 13, also known as DFNA13, is a form of non-syndromic sensorineural hearing loss characterized by postlingual onset in the second decade of life with mid-frequency hearing loss [4][5]. This condition is caused by heterozygous mutations in the COL11A2 gene [3].

The symptoms of autosomal dominant nonsyndromic deafness 13 typically include:

• Postlingual onset, meaning that the hearing loss occurs after language development has taken place
• Mid-frequency hearing loss, which affects the ability to hear sounds in the middle range of frequencies
• Sensorineural hearing loss, which is a type of hearing impairment related to an abnormal functionality of the cochlear nerve [1]

It's worth noting that autosomal dominant nonsyndromic deafness 13 is a rare condition, and more research is needed to fully understand its characteristics and implications.

Autosomal dominant nonsyndromic deafness 13 (DFNA13) is a genetic disorder that affects hearing. According to the available information, the signs and symptoms of DFNA13 are not well-documented in the provided context.

However, based on the information available, it can be inferred that DFNA13 is associated with nonsyndromic hearing loss, which means that it is not accompanied by other signs and symptoms [8]. The condition tends to be bilateral, meaning that both ears are affected, and post-lingual in onset, meaning that it occurs after the development of language skills [4].

It's worth noting that the characteristics of autosomal dominant non-syndromic hearing loss (HL) are heterogeneous, meaning that they can vary widely from person to person [3]. However, in most cases, HL tends to be bilateral and post-lingual in onset.

Unfortunately, there is limited information available on the specific signs and symptoms of DFNA13. Further research would be necessary to determine the exact characteristics of this condition.

References: [3] Cytoskeletal organization of inner ear hair cells. [4] The characteristics of autosomal dominant non-syndromic HL are heterogenous. [8] Nonsyndromic hearing loss can be classified in several different ways.

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal dominant nonsyndromic deafness:

• Genetic screening: Comprehensive genetic screening of candidate genes selected by family history and clinical presentation is recommended for families segregating autosomal dominant nonsyndromic deafness [8].
• Next-generation sequencing technologies: A multi-step approach based on next-generation sequencing technologies may be the most effective strategy for the diagnosis of non-syndromic genetic HL (hearing loss) [6].
• Mitochondrial genome analysis: Mitochondrial genome analysis is also included in some diagnostic panels, such as those used for patients with a clinical suspicion of syndromic or non-syndromic genetic hearing loss [7].

It's worth noting that the diagnosis/testing process may involve other steps and considerations, but these tests are specifically mentioned in the provided context.

References: [6] by M Aldè · 2023 · Cited by 31 [7] [8] by RJH Smith · Cited by 240

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

• Currently, no specific drug treatments are mentioned in the search results as a cure or effective treatment for autosomal dominant nonsyndromic deafness. [1][2]
• However, research is being conducted to explore gene therapy and other approaches to reversing or preventing genetic hearing loss. [8][9]
• Cochlear implants or hearing aids can improve auditory function in some patients with severe-to-profound hearing loss, but these methods are not specific treatments for autosomal dominant nonsyndromic deafness. [4][6]

It's essential to note that the search results suggest a lack of effective drug treatments specifically targeting autosomal dominant nonsyndromic deafness. However, ongoing research may lead to new discoveries and potential treatments in the future.

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

Autosomal dominant nonsyndromic deafness (ADNSHL) refers to a type of hearing loss that is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. In the case of ADNSHL-13, it is caused by a missense mutation in the COL11A2 gene.

To determine the differential diagnosis for ADNSHL-13, we need to consider other conditions that may present with similar symptoms and characteristics. Here are some possible differentials:

• Other forms of autosomal dominant hearing loss: There are several other types of autosomal dominant hearing loss, including DFNA1, DFNA2, and DFNA3, each caused by mutations in different genes. These conditions may present with similar symptoms to ADNSHL-13.
• Autosomal recessive hearing loss: While ADNSHL-13 is inherited in an autosomal dominant pattern, other forms of nonsyndromic hearing loss can be inherited in an autosomal recessive manner. This means that a person would need to inherit two copies of the mutated gene (one from each parent) to develop the condition.
• Sensory neural hearing loss: ADNSHL-13 is characterized by sensorineural hearing loss, which results from damage to the inner ear or the nerve pathways connecting it to the brain. Other conditions that cause sensory neural hearing loss may also need to be considered in the differential diagnosis.

According to a study published in 2001 [10], the phenotype of ADNSHL-13 was analyzed in a 5-generation family with a missense mutation in the COL11A2 gene. The study found that the condition presented with autosomal dominant, presumably progressive hearing loss.

References:

[10] EMR De Leenheer (2001) - "Analysis of the phenotype in a 5-generation DFNA13 family with a missense mutation in the COL11A2 gene"