Chromosome 10 DNA Sequence Chromosome 10 419 014

Chromosome 10 DNA Sequence Chromosome 10 419, 014 bp Name of Gene CDH 23 Name of Protein Cadheri n transcription m. RNA What does this protein make up or do? They play important roles in cell adhesion, forming adherens junctions to bind cells within tissues together. Condition/Disease Usher Syndrome Amino acid sequence 530 aa translation

Description of Usher Syndrome n Symptoms and characteristics n Born with Usher Syndrome is type 1. n hearing loss and an eye disorder called retinitis pigmentosa. n Normal Retina Retinitis pigmentosa causes nightblindness and a loss of peripheral vision through the progressive degeneration of the retina. Retina of a patient with Usher Syndrome http: //www. nidcd. nih. gov/health/heari ng/pages/usher. aspx

Description of Usher syndrome n Who is affected? Mainly children; n n n 3 to 6 percent of all children who are deaf and another 3 to 6 percent of children who are hard-of-hearing have Usher syndrome. Most cases of type 3 come from Finland. Those who are either deaf or blind are represented to have usher syndrome. Genetically inherited by parents. Outlook or quality of life n n Have to get a cochlear implant to live a more independent easy life. Cant see and/or hear. Communicate with sign language Hearing aids sometime helps for some patients but not always.

References n n n http: //ghr. nlm. nih. gov/gene/CDH 23 http: //www. nature. com/nature/journal/v 449/n 7158/full/nat ure 06091. html http: //www. ncbi. nlm. nih. gov/gene? cmd=retrieve&dopt=d efault&list_uids=64072 www. medicinenet. com/usher_syndrome/page 2. htm http: //www. jneurosci. org/content/32/2/490 www. medicinenet. com/usher_syndrome/article. htm