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Genetic Researchers Work to Improve Diagnosis of Usher Syndrome

By HERWriter
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Genetic researchers in Germany believe their research will lead to better ways to diagnose Usher syndrome. This condition causes up to ten percent of all cases of deafness in children and 50 percent of combined deafness and blindness in adults.

Usher Syndrome Defined
Approximately 10,000 to 15,000 people in the United States have Usher syndrome, which is a combination of deafness and blindness. There are three basic types of Usher syndrome:

Type 1 causes deafness at birth and progressive vision loss from retinitis pigmentosa as early as age five.

Type 2 causes moderate to severe hearing loss at birth which progresses to deafness. Vision can be near normal at birth but progresses slowly toward blindness beginning in the teens.
Type 3 patients are born with normal hearing and vision but begin to lose both senses by about age 20.

Recessive Genes Defined
Usher syndrome has long been considered to be an autosomal recessive condition. This means that the condition is inherited and is caused by a mutation to a gene that is recessive, or non-dominant. During conception, a child receives one-half of her genes from her mother and the other matching half of her genes from her father. In order to function, both halves of each gene must be present.

Each half of a gene pair can be either dominant or recessive. If a gene is dominant, it is going to “win” over a recessive gene in controlling whether that trait shows up in the new baby or not. In the case of Usher syndrome, we can call a normal, dominant gene a “good” gene. The genetic mutation that causes Usher syndrome, which is a recessive or “submissive” gene we will call a “bad” gene.

If each parent gives the baby a good gene, her gene pair will be normal and she will not have Usher syndrome. If one parent gives her a good gene and the other parent gives her a bad gene, the good gene will overpower the bad gene and she will not have Usher syndrome. But if both parents give her a bad or recessive gene, there is no good gene present to overpower them and she will have Usher syndrome.

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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.


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