{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:25:59Z","timestamp":1747185959683,"version":"3.40.5"},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T00:00:00Z","timestamp":1689206400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Diabetes Invest"],"published-print":{"date-parts":[[2023,10]]},"abstract":"Abstract<\/jats:title>The term laminopathies refers to a group of congenital diseases characterized by accelerated degeneration of human tissues. Mutations in LMNA, LMNB, ZMPSTE24, and other genes lead to structural and functional abnormalities associated with lamins. One subtype of laminopathy is the generalized lipodystrophy\u2010associated progeroid syndrome (GLPS), which occurs in patients with heterozygous mutations of the LMNA gene c.29C>T(p.T10I). This paper reports the first case of GLPS in China and compares the clinical features of other GLPS patients with literature reports. A 16\u2010year\u2010old male patient was treated for diabetic ketoacidosis, presenting with premature aging appearance, systemic lipodystrophy, severe fatty liver, and decreased bone density. After peripheral blood DNA extraction and second\u2010generation sequencing, a heterozygous mutation of exon 1 of the LMNA gene c.29C>T(p.T10I) was detected. This case of GLPS may provide a diagnostic and therapeutic basis for potential patients.<\/jats:p>","DOI":"10.1111\/jdi.14055","type":"journal-article","created":{"date-parts":[[2023,7,14]],"date-time":"2023-07-14T05:44:50Z","timestamp":1689313490000},"page":"1221-1225","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A subtype of laminopathies: Generalized lipodystrophy\u2010associated<\/scp> progeroid syndrome caused by LMNA<\/scp> gene c.29C<\/scp>>T mutation"],"prefix":"10.1111","volume":"14","author":[{"given":"Shipeng","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Emergency First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-9991-0328","authenticated-orcid":false,"given":"Yan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism First Affiliated Hospital of Nanchang University Nanchang China"},{"name":"Jiangxi Clinical Research Center for Endocrine and Metabolic Disease Nanchang China"},{"name":"Jiangxi Branch of National Clinical Research Center for Metabolic Disease Nanchang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuan","family":"Zhan","sequence":"additional","affiliation":[{"name":"Department of Emergency First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuhao","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Emergency First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,7,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017-02078"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.5483\/BMBRep.2018.51.7.113"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh265"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/febs.15526"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells9051306"},{"key":"e_1_2_10_7_1","first-page":"96","article-title":"Laminopathies\u2014one gene, multiple diseases","volume":"1","author":"Song SJ","year":"2005","journal-title":"J Peking Univ (Health Sci)"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-013-0074-7"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-020-01464-z"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2005.01757.x"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1464-5491.2003.01034.x"},{"key":"e_1_2_10_12_1","first-page":"111","article-title":"Literature review on laminopathy and case report of a novel laminopathy","volume":"2","author":"Meng\u2010yin C","year":"2009","journal-title":"Chin J Diabetes Mellitus"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.015651"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-27302008000800008"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-12-0268"}],"container-title":["Journal of Diabetes Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdi.14055","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T03:46:04Z","timestamp":1732679164000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jdi.14055"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,13]]},"references-count":14,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1111\/jdi.14055"],"URL":"https:\/\/doi.org\/10.1111\/jdi.14055","archive":["Portico"],"relation":{},"ISSN":["2040-1116","2040-1124"],"issn-type":[{"type":"print","value":"2040-1116"},{"type":"electronic","value":"2040-1124"}],"subject":[],"published":{"date-parts":[[2023,7,13]]},"assertion":[{"value":"2023-05-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}