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Deafness Caused by Genetic Mutation, Study Finds

Update Date: Sep 30, 2012 09:53 PM EDT

Researchers have just discovered a new genetic mutation responsible for deafness and hearing loss associated with Usher Syndrome type 1, a genetic defect that causes deafness, night-blindness and a loss of peripheral vision through the progressive degeneration of the retina, according to the National Institutes of Health.

Published in the journal Nature Genetics, the study highlights new therapeutic targets for those at risk for this syndrome and ways for early diagnosis.

According to the study, 3 to 6 percent of children who are hard-of-hearing have Usher syndrome. Because it is a genetic disorder parents who are carriers often do not know that they have one out four chances to have a child with the syndrome.

"In this study, researchers were able to pinpoint the gene which caused deafness in Usher syndrome type 1 as well as deafness that is not associated with the syndrome through the genetic analysis of 57 humans from Pakistan and Turkey," says Zubair Ahmed, PhD, assistant professor of ophthalmology who conducts research at Cincinnati Children's and is the lead investigator on this study.

A specific protein called CIB2 was found to be associated with the disorder as well as with non-syndromic hearing loss.

"With this knowledge, we are one step closer to possibly finding a genetic target to prevent non-syndromic deafness as well as that associated with Usher syndrome type 1," Ahmed says.

This study was funded by the National Institute of Deafness and other Communication Disorders (NIDCD) and the National Science Foundation and the Research to Prevent Blindness Foundation.

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