Definition of Werner syndrome

Reviewed on 6/3/2021

Werner syndrome: A premature aging disease that begins in adolescence or early adulthood and results in apparent old age by 30'40 years of age. Characteristic features include short stature, premature graying, early baldness, wizened face, beaked nose, cataracts, skin changes reminiscent of those in scleroderma, deposits of calcium beneath the skin, premature arteriosclerosis, and a tendency to diabetes and to tumors (especially osteosarcoma and meningioma). Werner syndrome is inherited in an autosomal recessive manner and is due to mutation in the WRN gene on chromosome 8, which encodes RecQ DNA helicase, an enzyme that catalyzes the unwinding of DNA.

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