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This case report characterizes young-onset diabetes associated with m.3243A>G in MT-TL1 and c.1336G>A in CEL, emphasizing clinical features, genetic mechanisms, and diagnostic complexity. The objective is to support precise typing, genetic counseling, and personalized care while broadening evidence for rare monogenic diabetes variants. CASE SUMMARY and CONCLUSION summarize findings and testing rationale.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/clinical-and-genetic-characteristics-of-young-onset-diabetes-with-concurrent-mitochondrial-m3243ag-and-cel-gene-mutations-a-case-report/406330/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/clinical-and-genetic-characteristics-of-young-onset-diabetes-with-concurrent-mitochondrial-m3243ag-and-cel-gene-mutations-a-case-report/406330.png","ImageObject",300,407,{"name":92,"@type":93},"Aditya","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-05","2026-09-28",true,{"@type":102,"interactionType":103,"userInteractionCount":34},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What genetic mutations are reported in this case of young-onset diabetes?","Question",{"text":112,"@type":113},"The case involves concurrent mutations: mitochondrial MT-TL1 m.3243A>G and CEL c.1336G>A.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What clinical features were observed in the 30-year-old patient?",{"text":117,"@type":113},"The patient had poor insulin response, markedly elevated glycated hemoglobin, severe wasting, sensorineural deafness, diabetic retinopathy, and peripheral neuropathy.",{"name":119,"@type":110,"acceptedAnswer":120},"How did family investigation contribute to understanding the mutations?",{"text":121,"@type":113},"The mother carried the CEL mutation and had diabetes, while the sister carried both mutations but did not have diabetes, highlighting variability in disease expression.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},406330,1790821910,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":34,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":44,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144,"preview_page_count":4},962085564549,"https://ap-avatar.wpscdn.com/davatar_085a072bc5b1113ac321206ff7593b45","| W | J | D | World Journal of\u003Cbr>Diabetes |\n| --- | --- | --- | --- |\n\nSubmit a Manuscript: [https://www.f6publishing.com](https://www.f6publishing.com) World J Diabetes 2025 December 15; 16(12): 113238  \nDOI: 10.4239/wjd.v16.i12.113238 ISSN 1948-9358 (online)  \nCASE REPORT  \nClinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report  \nXiao-Dan Che, Zheng-Liang Wei, Wuriliga Gong, Ling Qin, Shuang Liu, Yuan-Hui Jin, He-Yuan Wang  \nSpecialty type: Endocrinology and metabolism  \nProvenance and peer review:  \nUnsolicited article; Externally peer reviewed.  \nPeer-review model: Single blind  \nPeer-review report’s classification Scientific Quality: Grade A, Grade A, Grade A, Grade B, Grade B, Grade B  \nNovelty: Grade A, Grade A, Grade A, Grade B, Grade B  \nCreativity or Innovation: Grade A, Grade B, Grade B, Grade B, Grade B  \nScientific Significance: Grade A, Grade B, Grade B, Grade B, Grade B  \nP-Reviewer: Alvarez M, MD, Professor, Colombia; Chen HD, MD, PhD, Director, Professor, China; Horowitz M, MD, PhD, Professor, Australia; Li MH,  \nProfessor, China  \nReceived: August 21, 2025  \nRevised: October 10, 2025  \nAccepted: November 18, 2025  \nPublished online: December 15, 2025  \nProcessing time: 117 Days and 0.6 Hours  \nXiao-Dan Che, Ling Qin, Shuang Liu, Yuan-Hui Jin, Department of Endocrinology, Meihekou Central Hospital, Meihekou 135000, Jilin Province, China  \nZheng-Liang Wei, Wuriliga Gong, He-Yuan Wang, Department of Endocrinology and Metabolism,  \nThe First Hospital of Jilin University, Changchun 130000, Jilin Province, China Co-first authors: Xiao-Dan Che and Zheng-Liang Wei.  \nCo-corresponding authors: Yuan-Hui Jin and He-Yuan Wang.  \nCorresponding author: He-Yuan Wang, MD, Department of Endocrinology and Metabolism, The First Hospital of Jilin University, No. 1 Xinmin Street, Changchun 130000, Jilin Province, [China.](China. wangheyuan@jlu.edu.cn)[ wangheyuan@jlu.edu.cn](China. wangheyuan@jlu.edu.cn)  \nAbstract  \nBACKGROUND  \nOnly a few cases of diabetes mellitus with concurrent mutations in the mitochondrial MT-TL1 and CEL genes have been reported worldwide. Racial differences may influence mutation frequency, the presentation of symptoms, and disease progression. This case report describes the clinical features, potential genetic mechanisms, and diagnostic complexity of young-onset diabetes mellitus with concurrent m.3243A>G mutation in MT-TL1 and c.1336G>A mutation in CEL. The objective is to inform precise typing, genetic counseling, and personalized treatment of monogenic diabetes mellitus, while expanding the evidence base on rare forms of diabetes mellitus.  \nCASE SUMMARY  \nA 30-year-old man, diagnosed with diabetic ketoacidosis six years earlier, presented with poor response to insulin therapy (glycated hemoglobin, 15.35%), marked wasting (body mass index: 15.06 kg/m2), sensorineural deafness, diabetic retinopathy, and peripheral neuropathy. Whole-exome sequencing revealed concurrent mutations: Mitochondrial MT-TL1 m.3243A>G (heteroplasmy 41.76%) and CEL c.1336G>A. Family investigation identified his mother, who also had diabetes, as a carrier of the CEL mutation, and his sister as harboring both mutations without diabetes.  \n WJD  [https://www.wjgnet.com](https://www.wjgnet.com) 1 December 15, 2025  Volume 16  Issue 12   \nChe XD et al. Young-onset diabetes with dual mutations  \nCONCLUSION  \nThis case highlights the genetic heterogeneity of monogenic diabetes and expands the known mutational spectrum. Comprehensive genetic testing is recommended to enhance diagnostic accuracy in cases of suspected monogenic diabetes.  \nKey Words: Monogenic diabetes; Genetic heterogeneity; Dual mutations; Precise diagnosis; Mutational spectrum; Case report  \n©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.  \nCore Tip: This case report describes a young man with diabetes mellitus attributable to concurrent mutation","cbCaihtC7DAckLm4","https://ap.wps.com/l/cbCaihtC7DAckLm4","pdf",5909600,"English","# Abstract\n## Background\n## Case Summary\n## Conclusion\n# Introduction","[{\"question\":\"What genetic mutations are reported in this case of young-onset diabetes?\",\"answer\":\"The case involves concurrent mutations: mitochondrial MT-TL1 m.3243A\\u003eG and CEL c.1336G\\u003eA.\"},{\"question\":\"What clinical features were observed in the 30-year-old patient?\",\"answer\":\"The patient had poor insulin response, markedly elevated glycated hemoglobin, severe wasting, sensorineural deafness, diabetic retinopathy, and peripheral neuropathy.\"},{\"question\":\"How did family investigation contribute to understanding the mutations?\",\"answer\":\"The mother carried the CEL mutation and had diabetes, while the sister carried both mutations but did not have diabetes, highlighting variability in disease expression.\"}]","Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations - A case report | PDF",1790564881,23]