PT  - JOURNAL ARTICLE
AU  - Margarida Lucas Rocha
AU  - Ana Teodósio Chicharo
AU  - Graça Sequeira
AU  - Vitor Teixeira
TI  - Adult progeria: a new mutation in the WRN gene
AID  - 10.1136/bcr-2022-252646
DP  - 2022 Nov 01
TA  - BMJ Case Reports
PG  - e252646
VI  - 15
IP  - 11
4099  - http://casereports.bmj.com/content/15/11/e252646.short
4100  - http://casereports.bmj.com/content/15/11/e252646.full
SO  - BMJ Case Reports2022 Nov 01; 15
AB  - 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.