title: [Werner syndrome. A prototypical form of segmental progeria.]
abstract: Werner syndrome is a segmental progeroid disorder with onset in adolescence or early adulthood. Typical symptoms contributing to patients' prematurely aged appearance include postpubertal development of short stature, cataracts, premature greying/thinning of scalp hair, scleroderma-like skin changes and regional atrophy of subcutaneous fat tissue. In addition, an increased rate and early onset of typical age-related diseases such as type 2 diabetes mellitus, osteoporosis, atherosclerosis, and various malignancies is observed. Werner syndrome is autosomal recessively inherited and caused by mutations in the Werner gene (WRN). To date, more than 70WRNmutations have been identified. These are spread over the entire gene and typically represent loss of function mutations.WRNencodes a RecQ type helicase involved in DNA repair and the maintenance of DNA integrity, which is reflected by an increased genetic instability in patient cells. Despite the relative rarity of Werner syndrome, its analysis provides important general insights into the roles of DNA stability and integrity for the ageing process and the development of age-associated diseases.
authors.affiliation: Institut für Humangenetik, Universität Ulm.
authors.forename: D
authors.initials: D
authors.lastname: Lessel
authors.affiliation: Department of Pathology, University of Washington, Seattle ; International Registry of Werner Syndrome, University of Washington, Seattle.
authors.forename: J
authors.initials: J
authors.lastname: Oshima
authors.affiliation: Institut für Humangenetik, Universität Ulm.
authors.forename: C
authors.initials: C
authors.lastname: Kubisch