{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T20:40:03Z","timestamp":1759869603600,"version":"build-2065373602"},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:00:00Z","timestamp":1759795200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:00:00Z","timestamp":1759795200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"the Youth Top Talent Project of Fujian Provincial Foal Eagle Program.","award":["the Youth Top Talent Project of Fujian Provincial Foal Eagle Program."],"award-info":[{"award-number":["the Youth Top Talent Project of Fujian Provincial Foal Eagle Program."]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal dominant disorder characterised by premature ageing, with an average life expectancy of 14.6 years. We report a case of HGPS associated with a typical C. 1824\u00a0C\u2009&gt;\u2009T (P. Gly608Gly) mutation in the 11th exon of the LMNA gene in a 21-year-old woman. The patient presented with a three-year history of progressive exertional dyspnea that acutely worsened over the five days preceding admission. She had a short stature (weight 13\u00a0kg, height 85\u00a0cm), typical craniofacial features, and scleroderma-like skin changes. Cardiovascular evaluation showed signs of premature ageing (ejection fraction 30.8%). This patient is the oldest among all reported cases of HGPS associated with typical mutations. We describe rapid progression of HGPS in this patient and recommend that physicians should consider coronary heart disease in the differential diagnosis of chest pain in patients with HGPS, regardless of age.<\/jats:p>","DOI":"10.1186\/s13023-025-04022-6","type":"journal-article","created":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T08:05:45Z","timestamp":1759824345000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rare case of longevity in Hutchinson-Gilford progeria syndrome and literature review"],"prefix":"10.1186","volume":"20","author":[{"given":"Xiao-ling","family":"Cai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue-qin","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-fei","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming-xiang","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai-yang","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,10,7]]},"reference":[{"key":"4022_CR1","doi-asserted-by":"publisher","first-page":"159","DOI":"10.2147\/TACG.S238715","volume":"13","author":"H Pachajoa","year":"2020","unstructured":"Pachajoa H, Claros-Hulbert A, Garc\u00eda-Quintero X, Perafan L, Ramirez A, Zea-Vera AF. Hutchinson-Gilford Progeria syndrome: clinical and molecular characterization. Appl Clin Genet. 2020;13:159\u201364.","journal-title":"Appl Clin Genet"},{"issue":"6","key":"4022_CR2","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1111\/jdv.17174","volume":"35","author":"S Wang","year":"2021","unstructured":"Wang S, Yang Z, Xu Z, Chu Y, Liang Y, Wei L, Zhang B, Xu Z, Ma L. Clinical and genetic features of children with Hutchinson-Gilford progeria syndrome: a case series and a literature review. J Eur Acad Dermatol Venereol. 2021;35(6):387-387e391.","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"2","key":"4022_CR3","doi-asserted-by":"publisher","first-page":"395","DOI":"10.3390\/cells9020395","volume":"9","author":"R Kreienkamp","year":"2020","unstructured":"Kreienkamp R, Gonzalo S. Metabolic dysfunction in Hutchinson-Gilford progeria syndrome. Cells. 2020;9(2):395.","journal-title":"Cells"},{"key":"4022_CR4","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1016\/B978-0-444-62702-5.00018-4","volume":"132","author":"NJ Ullrich","year":"2015","unstructured":"Ullrich NJ, Gordon LB. Hutchinson-Gilford progeria syndrome. Handb Clin Neurol. 2015;132:249\u201364.","journal-title":"Handb Clin Neurol"},{"issue":"3","key":"4022_CR5","first-page":"216","volume":"21","author":"MM Rahman","year":"2021","unstructured":"Rahman MM, Ferdous KS, Ahmed M, Islam MT, Khan MR, Perveen A, Ashraf GM, Uddin MS. Hutchinson-Gilford progeria syndrome: an overview of the molecular mechanism, pathophysiology and therapeutic approach. Curr Gene Ther. 2021;21(3):216\u201329.","journal-title":"Curr Gene Ther"},{"issue":"2","key":"4022_CR6","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1111\/pde.12406","volume":"32","author":"Y Chu","year":"2015","unstructured":"Chu Y, Xu ZG, Xu Z, Ma L. Hutchinson-Gilford progeria syndrome caused by an LMNA mutation: a case report. Pediatr Dermatol. 2015;32(2):271\u20135.","journal-title":"Pediatr Dermatol"},{"issue":"4","key":"4022_CR7","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1001\/jamacardio.2017.5377","volume":"3","author":"D Fatkin","year":"2018","unstructured":"Fatkin D. Left ventricular diastolic dysfunction in Hutchinson-Gilford progeria syndrome. JAMA Cardiol. 2018;3(4):334\u20135.","journal-title":"JAMA Cardiol"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-04022-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-04022-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-04022-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T20:03:00Z","timestamp":1759867380000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-025-04022-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,7]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["4022"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-04022-6","relation":{},"ISSN":["1750-1172"],"issn-type":[{"type":"electronic","value":"1750-1172"}],"subject":[],"published":{"date-parts":[[2025,10,7]]},"assertion":[{"value":"15 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 August 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 October 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patients\u2019 parents for this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The parents have consented to the submission of the case report to the journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors have no relevant financial or non-financial interests to disclose.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"506"}}