{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:06:51Z","timestamp":1756339611863,"version":"3.44.0"},"reference-count":26,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,11,3]]},"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:p>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.<\/jats:p>\n               <jats:p>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.<\/jats:p>","DOI":"10.1136\/bcr-2022-252646","type":"journal-article","created":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T09:20:19Z","timestamp":1668676819000},"page":"e252646","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Adult progeria: a new mutation in the WRN gene"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3665-8210","authenticated-orcid":false,"given":"Margarida Lucas","family":"Rocha","sequence":"first","affiliation":[{"name":"Rheumatology, Hospital de Faro, Faro, Faro, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Teod\u00f3sio","family":"Chicharo","sequence":"additional","affiliation":[{"name":"Rheumatology, Hospital de Faro, Faro, Faro, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gra\u00e7a","family":"Sequeira","sequence":"additional","affiliation":[{"name":"Rheumatology, Hospital de Faro, Faro, Faro, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vitor","family":"Teixeira","sequence":"additional","affiliation":[{"name":"Rheumatology, Hospital de Faro, Faro, Faro, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,11,17]]},"reference":[{"key":"2025082712271010000_15.11.e252646.1","unstructured":"Oshima J , Martin GM , Hisama FM . 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Bras. Reumatol"},{"key":"2025082712271010000_15.11.e252646.9","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-022-02383-w","article-title":"Lifetime extension and the recent cause of death in Werner syndrome: a retrospective study from 2011 to 2020","volume":"17","author":"Kato","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"2025082712271010000_15.11.e252646.10","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-196605000-00001"},{"key":"2025082712271010000_15.11.e252646.11","doi-asserted-by":"crossref","first-page":"294","DOI":"10.3109\/s101650200052","article-title":"What can we learn from Werner syndrome? A biased view from a rheumatologist","volume":"12","author":"Goto","year":"2002","journal-title":"Mod Rheumatol"},{"key":"2025082712271010000_15.11.e252646.12","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1159\/000489055","article-title":"Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients","volume":"9","author":"Maezawa","year":"2018","journal-title":"Mol Syndromol"},{"key":"2025082712271010000_15.11.e252646.13","unstructured":"International registry of Werner syndrome website, 2019. Available: www.wernersyndrome.org [Accessed 1 Aug 2022]."},{"key":"2025082712271010000_15.11.e252646.14","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1111\/j.1447-0594.2012.00913.x","article-title":"Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey","volume":"13","author":"Takemoto","year":"2013","journal-title":"Geriatr Gerontol Int"},{"key":"2025082712271010000_15.11.e252646.15","doi-asserted-by":"crossref","DOI":"10.1186\/s12886-018-0873-4","article-title":"A case report of Werner's syndrome with bilateral juvenile cataracts","volume":"18","author":"Chen","year":"2018","journal-title":"BMC Ophthalmol"},{"key":"2025082712271010000_15.11.e252646.16","unstructured":"Werner O . Ubert katarakt in verbindung MIT skerodermie. 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