Werner syndrome

Werner syndrome is a rare autosomal recessive disorder caused by pathogenic variants in WRN. Its features of premature aging typically begin after puberty.

WRN: WRN is a human gene encoding a DNA helicase and exonuclease involved in genome maintenance. Pathogenic variants in this gene cause Werner syndrome.
Cataract: A cataract is clouding of the eye’s lens that can impair vision. Bilateral cataracts often appear unusually early in Werner syndrome.
Autosomal recessive inheritance: Autosomal recessive inheritance occurs when a condition results from pathogenic variants in both copies of an autosomal gene. Werner syndrome usually requires pathogenic WRN variants on both gene copies.
Cancer surveillance: Cancer surveillance is the planned monitoring of people at elevated cancer risk to detect malignancy early. Werner syndrome increases risk for several cancers, including uncommon tumor types.
Progeria: Progeria is a group of disorders causing features of premature aging, including Hutchinson–Gilford progeria syndrome. Comparing distinct progeroid disorders can reveal which aging mechanisms are shared or specific.
DNA helicase: A DNA helicase is an enzyme that separates paired DNA strands using energy from nucleotide hydrolysis. The WRN protein’s helicase activity helps process DNA structures that accumulate during replication and repair.
Scleroderma-like skin changes: Scleroderma-like skin changes include tight, thin skin and loss of subcutaneous tissue without necessarily having systemic sclerosis. These changes are characteristic physical signs of Werner syndrome.
Pathogenic variant: A pathogenic variant is a genetic alteration established to cause or contribute to disease. This is the type of WRN alteration underlying the syndrome.
Genetic counseling: Genetic counseling helps individuals and families understand inherited conditions, testing, and reproductive implications. It can explain recessive inheritance and assess risks for relatives.
Hallmarks of aging: The hallmarks of aging are interconnected biological processes proposed to drive age-related decline. Werner syndrome offers a human model for studying several aging-related processes together.

Linked from 1 page