{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T16:59:17Z","timestamp":1782233957464,"version":"3.54.5"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T00:00:00Z","timestamp":1769126400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      CEL-related Maturity-Onset Diabetes of the Young (CEL-MODY) is a rare form caused by carboxyl ester lipase (\n                      <jats:italic>CEL<\/jats:italic>\n                      ) gene mutations. It is characterized by dysglycemia and pancreatic exocrine dysfunction. We described a case to highlights the heterogeneity of clinical manifestations of the\n                      <jats:italic>CEL<\/jats:italic>\n                      gene mutations in pediatric patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report a 12-year-old boy presenting with impaired fasting glucose. The patient reported no abdominal pain. Magnetic resonance imaging (MRI) of the pancreas revealed no evidence of pancreatic atrophy, fatty infiltration, or other abnormalities. Additionally, the fecal elastase level was within the normal range. Genetic analysis identified a novel heterozygous mutation in the\n                      <jats:italic>CEL<\/jats:italic>\n                      gene (c.1809dupC). The child exhibited only early-stage diabetes without concomitant pancreatic exocrine insufficiency, indicating a phenotypically mild form.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Children with\n                      <jats:italic>CEL<\/jats:italic>\n                      gene mutations appear to exhibit significant phenotypic heterogeneity. It may be correlated with both the specific mutation type and age at disease onset. Thus, lifelong, systematic monitoring of pancreatic endocrine and exocrine function is clinically necessary.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1706262","type":"journal-article","created":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T06:48:35Z","timestamp":1769150915000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel variation in the CEL gene causing impaired fasting glucose in a Chinese pediatric patient: case report and literature review"],"prefix":"10.3389","volume":"17","author":[{"given":"Chang","family":"Su","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Genetics, and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yurong","family":"Piao","sequence":"additional","affiliation":[{"name":"Department of Immunology, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Congli","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, West China Second University Hospital, Sichuan University","place":["Chengdu, China"]},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University","place":["Chengdu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Genetics, and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rongmin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Beijing Children\u2019s Hospital Affiliated to Capital Medical University Baoding Hospital","place":["Baoding, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanmei","family":"Sang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Genetics, and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,23]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"7553","DOI":"10.3390\/ijms22147553","article-title":"Maturity onset diabetes of the young-new approaches for disease modelling","volume":"22","author":"Skoczek","year":"2021","journal-title":"Int J Mol Sci"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgab864","article-title":"Two new mutations in the CEL gene causing diabetes and hereditary pancreatitis: how to correctly identify MODY8 cases","volume":"107","author":"El Jellas","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"key":"B3","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1038\/ng1708","article-title":"Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction","volume":"38","author":"Raeder","year":"2006","journal-title":"Nat Genet"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1172\/JCI127397","article-title":"Residual beta cell function and monogenic variants in long-duration type 1 diabetes patients","volume":"129","author":"Yu","year":"2019","journal-title":"J Clin Invest"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.2337\/dc21-0491","article-title":"Monogenic diabetes in youth with presumed type 2 diabetes: results from the progress in diabetes genetics in youth (ProDiGY) collaboration","volume":"44","author":"Todd","year":"2021","journal-title":"Diabetes Care"},{"key":"B6","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1620\/tjem.256.37","article-title":"Identification of a novel mutation in carboxyl ester lipase gene in a patient with MODY-like diabetes","volume":"256","author":"Kondoh","year":"2022","journal-title":"Tohoku J Exp Med"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.2337\/db06-0859","article-title":"Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase","volume":"56","author":"Raeder","year":"2007","journal-title":"Diabetes"},{"key":"B8","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1007\/s00439-009-0740-8","article-title":"Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes","volume":"127","author":"Torsvik","year":"2010","journal-title":"Hum Genet"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2023.1188301","article-title":"From glucose sensing to exocytosis: takes from maturity onset diabetes of the young","volume":"14","author":"Samadli","year":"2023","journal-title":"Front Endocrinol (Lausanne)"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/j.pan.2017.12.001","article-title":"The role of the carboxyl ester lipase (CEL) gene in pancreatic disease","volume":"18","author":"Johansson","year":"2018","journal-title":"Pancreatology"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.222679","article-title":"Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease","volume":"286","author":"Johansson","year":"2011","journal-title":"J Biol Chem"},{"key":"B12","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1038\/s42255-021-00516-2","article-title":"Abnormal exocrine-endocrine cell cross-talk promotes beta-cell dysfunction and loss in MODY8","volume":"4","author":"Kahraman","year":"2022","journal-title":"Nat Metab"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.2337\/dc07-2217","article-title":"Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations","volume":"31","author":"Vesterhus","year":"2008","journal-title":"Diabetes Care"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2020-0336","article-title":"Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea","volume":"33","author":"Cheon","year":"2020","journal-title":"J Pediatr Endocrinol Metab"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa986","article-title":"Generation of beta Cells from iPSC of a MODY8 Patient with a Novel Mutation in the Carboxyl Ester Lipase (CEL) Gene","volume":"106","author":"Pellegrini","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"key":"B16","doi-asserted-by":"publisher","first-page":"100661","DOI":"10.1016\/j.jbc.2021.100661","article-title":"The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity","volume":"296","author":"Gravdal","year":"2021","journal-title":"J Biol Chem"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1136\/bmjdrc-2022-003127","article-title":"Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes","volume":"11","author":"Wu","year":"2023","journal-title":"BMJ Open Diabetes Res Care"},{"key":"B18","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1007\/s12020-023-03512-6","article-title":"Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes","volume":"83","author":"Sun","year":"2024","journal-title":"Endocrine"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2021.2020.0285","article-title":"The application of next generation sequencing maturity onset diabetes of the young gene panel in turkish patients from trakya region","volume":"13","author":"Yalcintepe","year":"2021","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabres.2016.10.005","article-title":"Clinical whole exome sequencing in early onset diabetes patients","volume":"122","author":"Kwak","year":"2016","journal-title":"Diabetes Res Clin Pract"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.3928\/19382359-20191018-01","article-title":"Pancreatic malnutrition in children","volume":"48","author":"Normatov","year":"2019","journal-title":"Pediatr Ann"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2026.1706262\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T06:48:36Z","timestamp":1769150916000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2026.1706262\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,23]]},"references-count":21,"alternative-id":["10.3389\/fendo.2026.1706262"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2026.1706262","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,23]]},"article-number":"1706262"}}