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Deaf blind gene is isolated

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Published on
March 3, 1995
Last updated
May 27, 2015

Scientists announced yesterday that they have identified a gene responsible for one of the major forms of deaf blindness.

The disease, Usher syndrome type 1b, causes children to be born deaf and progressively lose their sight during childhood. Around 1,500 people in the United Kingdom are thought to be affected.

Initial work on finding the gene was carried out by researchers at St Mary's Hospital Medical School at Imperial College, London in collaboration with the Medical Research Council's Institute of Hearing Research in Nottingham.

Working with mice, the scientists found a gene necessary for hearing which helps cells produce a special form of the protein myosin. Mutations of this gene result in abnormalities within the ear resulting in deafness.

Thanks to this work, French and American scientists were able to show that mutations in the human version of the gene are responsible for Usher syn-drome 1b.

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