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Schematic overview of the application of stem cell gene therapy to the improvement of hearing. This journal is a member of and subscribes to the principles of the Committee on Publication Ethics. Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). ReferencesAdato A, Lefevre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El-Amraoui A, Petit C (2005) Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.
JavaScript is currently disabled, this site works much better if you enable JavaScript in your browser. Connexin 26 (Cx26) is a protein found on the (GJB2) gene and is the most common cause of congenital sensorineural hearing loss. Connexin 26 mutations are genetically transmitted from parent to child in a recessive manner, which means that an affected individual must inherit one copy of the non-functioning gene from each parent. Connexin 26 mutations are non-syndromic, meaning that the mutation produces only isolated hearing loss. Connexin 26 mutations produce a pre-lingual hearing loss, because it affects the child before they are old enough to develop speech. Recent medical evidence has shown that there is an additional complexity to Connexin 26 mutations. The GJB2 gene contains the instructions for manufacturing a number of proteins, including Connexin 26. Connexin 26 mutations occur primarily in Caucasians, Ashkenazi Jews, and some Asian populations. A specialized interdisciplinary team of professionals is necessary to treat all of the issues associated with a Connexin 26 mutation. The California Ear Institute is a leading global center for otological, otolaryngological and audiological treatment. If it is the desire of the family for their child to hear and speak as normally as possible, it is necessary to seek medical evaluation as soon as possible after birth of a child who is referred by their newborn hearing screening program for additional testing, regardless of whether or not Connexin 26 is suspected to be the source of the hearing loss.
Patients searching the internet for information about Connexin 26 mutation or any other medical issue should know when reading about individual case histories, that generally it is the patients with the most severe symptoms who either post their own experiences or are included in medical review journals.
Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. Medical Website Design - Websites for Doctors of Otology, Audiology, Ears & Hearing by Vital Element, Inc. In a previous post we talked about different types of hearing loss, but there’s a lot more to hearing loss than just giving it a name to define the severity, like “severe-to-profound” or “sensorineural”.

If something happens to the information within a specific gene, then the gene will work differently. Depending on where you live, about 2 to 3 out of every 1,000 babies will be born with a severe-to-profound hearing loss. A genetic hearing loss can be independent, and other times it’s part of a larger syndrome that affects more than just the hearing.
One of the most common causes of genetic hearing loss is a change in the gene called “Connexin 26”. If your child has a genetic hearing loss, there are lots of different types of solutions that can help to restore their hearing. About this blog:This is the official blog of MED-EL, a leader in implantable hearing loss solutions.
Usher syndrome is an autosomal recessive condition that results in retinitis pigmentosa with associated congenital hearing loss. The seven proteins that have been identified for Usher syndrome type 1 (USH1) and type 2 (USH2) may interact in a large protein complex.
Connexin 26 mutations are responsible for at least 20% of all genetic hearing loss and 10% of all childhood hearing loss.
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
This is often why children tend to look like their parents, because they share some of the same genetic information. It’s like taking a recipe and removing or rearranging a few of the ingredients and instructions.
About half of the hearing loss in newborns (called congenital hearing loss) is due to genetics. Sometimes it occurs every generation, sometimes it skips a few generations, and sometimes it happens completely unexpectedly. About 70% of the time, a person with a genetic hearing loss will not have any other symptoms. Some syndromes that are commonly responsible for hearing loss include Pendred Syndrome, Waardenburg Syndrome, and Stickler Syndrome.
This is done with genetic testing, in which a professional who is trained in genetics will analyze your family’s genes with a simple blood test. Some people do so to learn more about themselves, while others do it because their genes directly affect their children. By contacting your doctor or visiting your local MED-EL clinic, you’ll be able to learn more about the best solution for your child.

It is a place where you can connect with MED-EL and learn all about hearing and hearing implants. In order to identify novel USH genes, we followed a candidate strategy, assuming that mutations in proteins interacting with this “USH network” may cause Usher syndrome as well.
In some ethnic populations, more than 80 percent of cases of nonsyndromic recessive deafness result from a mutated Connexin 26 gene.
There are tens of thousands of genes in the human body and each one of them is responsible for something different, like hair color or blood type. Most of the information will still be there, but if you follow the recipe you might not get the food that you expected. But that’s okay, because regardless of the cause your doctor will still be able to find the best hearing loss solution.
If you have a genetic hearing loss, then you can learn about what might happen if or when you have children. The DFNB31 gene encodes whirlin, a PDZ scaffold protein with expression in both hair cell stereocilia and retinal photoreceptor cells. Children born with bilateral (both ears) severe to profound sensorineural hearing losses are typically referred for genetic testing for Connexin 26 mutations.
Some of these genes also influence how a person’s cochlea (and the rest of the ear) grows and works.
The same goes with genes: when something changes the information in a gene, the body receives different instructions. Whirlin represents an excellent candidate for USH2 because it binds to Usherin (USH2A) and VLGR1b (USH2C). Genotyping of microsatellite markers specific for the DFNB31 gene locus on chromosome 9q32 was performed in a German USH2 family that had been excluded for all known USH loci.
DFNB31 mutations appear to be a rare cause of Usher syndrome, since no mutations were identified in an additional 96 USH2 patients. While mutations in the C-terminal half of whirlin have previously been reported in non-syndromic deafness (DFNB31), both alterations identified in our USH2 family affect the long protein isoform. We propose that mutations causing Usher syndrome are probably restricted to exons 1–6 that are specific for the long isoform and probably crucial for retinal function. We describe a novel genetic subtype for Usher syndrome, which we named USH2D and which is caused by mutations in whirlin.

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