Adult progeria: a new mutation in the WRN gene

• Published in: BMJ case reports Vol. 15; no. 11; p. e252646
• Main Authors: Rocha, Margarida Lucas, Chicharo, Ana Teodósio, Sequeira, Graça, Teixeira, Vitor
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 17.11.2022
• Subjects: Adult; Age; Arthritis; Case reports; Diabetes; Disease; Exodeoxyribonucleases - genetics; Hair; Humans; Laboratories; Melanoma; Mutation; Osteoporosis; Patients; RecQ Helicases - genetics; Rheumatism; Scleroderma; Skin cancer; Tendons; Ulcers; Werner Syndrome - diagnosis; Werner Syndrome - genetics; Werner Syndrome Helicase - genetics; X-rays; Connective tissue disease; Genetics; Rheumatology
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2022-252646

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.