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USHER SYNDROME

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by josh pressler on 21 March 2012

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Transcript of USHER SYNDROME

USHER SYNDROME KARYOTYPE
Both copies of the gene must be mutated.

Often, there is no family history of Usher Syndrome.

Each child will have a 25% chance of getting Usher Syndrome.
Mutations in the CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes cause Usher syndrome.
The genes related to Usher syndrome provide instructions for making proteins that play important roles in normal hearing, balance, and vision. They function in the development and maintenance of hair cells, which are sensory cells in the inner ear that help transmit sound and motion signals to the brain. In the retina, these genes are also involved in determining the structure and function of light-sensing cells called rods and cones. In some cases, the exact role of these genes in hearing and vision is unknown. Most of the mutations responsible for Usher syndrome lead to a loss of hair cells in the inner ear and a gradual loss of rods and cones in the retina. Degeneration of these sensory cells causes hearing loss, balance problems, and vision loss characteristic of this condition.

What genes are related to Usher syndrome?
U u U U UU UU punet square UU UU cause and symptoms There are three types of Usher (Usher's) syndrome, the most common condition that affects both vision and hearing. The major symptoms of Usher syndrome include retinitis pigmentosa (night-blindness and a loss of peripheral vision), and hearing loss. Usher syndrome is a genetic condition. There is no cure for Usher syndrome.
Usher syndrome is inherited, which means that it is passed from parents to their children through genes. u Uu Uu Uu Uu uu who can get it both male and female can get as long if they two dominant genes such as (UU) But they can have one dominant gene and just be a carrier (Uu) U AFFECTED not affected carrier
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