Cockayne Syndrome

AP Biology

What is it?

A rare recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging.

Side effects: failure to gain weight and grow at an expected rate, an abnormally small head size, photosensitivity, eye abnormalities, hearing loss, cavities

Cause: At the molecular level, CS is caused by a defect in on of the genes involved in the normal repair of DNA that has been damaged by ultraviolet light. It is likely that the genes are involved in protein synthesis and it is caused by abnormal protein production.

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Cell signaling pathway