Connexin 26 sensorineural hearing loss

Common Name(s)

Connexin 26 sensorineural hearing loss, Deafness, nonsyndromic, Connexin 26

Connexin 26 sensorineural hearing loss is a type of nonsyndromic deafness caused by an error or mutation in a gene which codes for Connexin 26. Connexin 26 is a protein found in cells throughout the body, including the cochlea of the inner ear. The cochlea is the snail-shaped structure which aids in hearing by changing the vibrations we hear into signals that can be sent to the brain through our nerves. Connexin 26 helps form channels or connections between cells so that the cell may communicate with each other. These channels are important to the cells of the cochlea. If an individual has an error in the gene for Connexin 26, the protein will not work or function as it should. The cochlea cannot function properly without Connexin 26 and congenital deafness often results. This means the baby with a mutation in the gene for Connexin 26 may be born with complete hearing loss. Mutations that affect Connexin 26 are responsible for at least 20% of all genetic hearing loss and 10% of all childhood hearing loss. There type of sensorineural hearing loss is not usually associated with other birth defects (nonsyndromic). There are a number of options available for individuals with deafness or sensorineural hearing loss, including learning sign language, working with a speech pathologist to learn spoken language, and/or cochlear implants. Parents should seek information about the range of options open to their child before deciding which options may work best for their child and family. Specialists may include an otologist, an audiologist, a speech-language pathologist, a clinical geneticist, and a genetic counselor. Support organizations and other families may also be excellent resources.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Connexin 26 sensorineural hearing loss" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Connexin 26 sensorineural hearing loss" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Connexin 26 sensorineural hearing loss" returned 5 free, full-text research articles on human participants. First 3 results:

Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation.
 

Author(s): N J Leonard, A L Krol, S Bleoo, M J Somerville

Journal: J. Med. Genet.. 2005 Jan;42(1):e2.

 

Last Updated: 6 Jan 2005

Go To URL
[Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria].
 

Author(s): J Gallo-Terán, C Morales-Angulo, I del Castillo, M Villamar, M A Moreno-Pelayo, J García-Mantilla, F Moreno

Journal: Acta Otorrinolaringol Esp. 2002 Oct;53(8):563-71.

 

Sensorineural deafness is a very common disorder in humans, which affects approximately 10% of the population. Genetic causes are suggested to be responsible for more than half of the cases. The A1555G mutation in the mitochondrial 12S rRNA gene and the 35delG mutation in the GJB2 ...

Last Updated: 17 Jan 2003

Go To URL
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
 

Author(s): M J Houseman, L A Ellis, A Pagnamenta, W L Di, S Rickard, A H Osborn, H H Dahl, G R Taylor, M Bitner-Glindzicz, W Reardon, R F Mueller, D P Kelsell

Journal: J. Med. Genet.. 2001 Jan;38(1):20-5.

 

Mutations in the human gap junction beta-2 gene (GJB2) that encodes connexin-26 have been shown to cause non-syndromic sensorineural hearing loss (NSSNHL) at the DFNB1 locus on 13q11. Functional and genetic data regarding the disease causing potential of one particular GJB2 sequence ...

Last Updated: 8 Jan 2001

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Connexin 26 sensorineural hearing loss" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.