TY - JOUR T1 - Adult progeria: a new mutation in the WRN gene JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2022-252646 VL - 15 IS - 11 SP - e252646 AU - Margarida Lucas Rocha AU - Ana Teodósio Chicharo AU - Graça Sequeira AU - Vitor Teixeira Y1 - 2022/11/01 UR - http://casereports.bmj.com/content/15/11/e252646.abstract N2 - Werner syndrome (WS), also known as adult progeria, is a rare autosomal recessive inherited progeroid syndrome characterised by multiple features consistent with accelerated ageing. This disease is associated with several rheumatic conditions such as early osteoarthritis and osteoporosis, sarcopenia, soft-tissue calcifications, gout, limb ulcers and scleroderma-like skin features. WS should be included in the differential diagnosis of systemic sclerosis. The diagnosis is clinical, and in 90% of cases, a genetic test reveals a pathogenic variant of the WRN gene.WRN encodes a member of the RecQ family of DNA helicases and has a role in DNA repair. 86 different pathological WRN mutations have been identified so far. Here we present a case report of a typical WS patient associated with a newly described genetic variant of the WRN gene. ER -