{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T19:50:19Z","timestamp":1761767419437,"version":"3.41.2"},"reference-count":41,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T00:00:00Z","timestamp":1739491200000},"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:p>Monogenic diabetes, which encompasses neonatal diabetes (NDM), maturity onset diabetes of the young (MODY), and several diabetes-associated syndromes, primarily arises from impaired function or abnormal development of the islets of Langerhans, particularly pancreatic \u03b2-cells responsible for insulin secretion. This condition is typically associated with a single pathogenic genetic mutation. Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary demyelinating neuropathy that is caused by a duplication of the PMP22 gene located on chromosome 17. Herein, we report a case of a young Chinese patient with MODY6 harboring a novel mutation (c. 317C&amp;gt;T, p. Ala106Val) in the <jats:italic>NEUROD1<\/jats:italic> gene. Additionally, this patient concurrently presents with CMT1A, which is characterized by a large segmental duplication within the exon of the <jats:italic>PMP22<\/jats:italic> gene and its adjacent regions. Considering the patient\u2019s compromised islet function, we treat him with insulin and oral hypoglycemic agents (metformin, acarbose). This represents the first reported instance of a patient with NEUROD1-MODY coexisting with CMT1A.<\/jats:p>","DOI":"10.3389\/fendo.2025.1502783","type":"journal-article","created":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T05:10:36Z","timestamp":1739509836000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome"],"prefix":"10.3389","volume":"16","author":[{"given":"Jianyu","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunhua","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yujie","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuang","family":"Qi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,2,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1038\/15500","article-title":"Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus","volume":"23","author":"Malecki","year":"1999","journal-title":"Nat Genet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1038\/s41572-023-00421-w","article-title":"Monogenic diabetes","volume":"9","author":"Bonnefond","year":"2023","journal-title":"Nat Rev Dis Primers"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1101\/gad.9.8.1009","article-title":"Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor","volume":"9","author":"Naya","year":"1995","journal-title":"Genes Dev"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa710","article-title":"Approach to the patient with MODY-monogenic diabetes","volume":"106","author":"Broome","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"key":"B5","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1007\/s11892-019-1130-9","article-title":"Genetic dissection and clinical features of MODY6 (NEUROD1-MODY)","volume":"19","author":"Horikawa","year":"2019","journal-title":"Curr Diabetes Rep"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0099-1","article-title":"Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders","volume":"26","author":"Dillon","year":"2018","journal-title":"Eur J Hum Genet"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.3.465","article-title":"The phenotypic manifestations of chromosome 17p11.2 duplication","volume":"120","author":"Thomas","year":"1997","journal-title":"Brain"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/123.7.1516","article-title":"Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A","volume":"123","author":"Krajewski","year":"2000","journal-title":"Brain"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1210\/mend.16.5.0934","article-title":"Transactivation of the mouse sulfonylurea receptor I gene by BETA2\/NeuroD","volume":"16","author":"Kim","year":"2002","journal-title":"Mol Endocrinol"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.52.2.403","article-title":"BETA2 activates transcription from the upstream glucokinase gene promoter in islet beta-cells and gut endocrine cells","volume":"52","author":"Moates","year":"2003","journal-title":"Diabetes"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20021585","article-title":"Upstream stimulatory factor (USF) and neurogenic differentiation\/beta-cell E box transactivator 2 (NeuroD\/BETA2) contribute to islet-specific glucose-6-phosphatase catalytic-subunit-related protein (IGRP) gene expression","volume":"371","author":"Martin","year":"2003","journal-title":"Biochem J"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20031021","article-title":"The PAX6 gene is activated by the basic helix-loop-helix transcription factor NeuroD\/BETA2","volume":"376","author":"Marsich","year":"2003","journal-title":"Biochem J"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabet.2020.03.001","article-title":"Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene","volume":"46","author":"Bouillet","year":"2020","journal-title":"Diabetes Metab"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-010-1799-4","article-title":"Maturity-onset diabetes of the young (MODY): how many cases are we missing","volume":"53","author":"Shields","year":"2010","journal-title":"Diabetologia"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1279","article-title":"Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth","volume":"98","author":"Pihoker","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.2337\/dc16-0645","article-title":"Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. Pediatric diabetes population with monogenic diabetes","volume":"39","author":"Shepherd","year":"2016","journal-title":"Diabetes Care"},{"key":"B17","article-title":"Maturity-Onset Diabetes of the Young Overview","volume-title":"GeneReviews((R))","author":"Naylor","year":"1993"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1111\/jdi.12812","article-title":"Maturity-onset diabetes of the young as a model for elucidating the multifactorial origin of type 2 diabetes mellitus","volume":"9","author":"Horikawa","year":"2018","journal-title":"J Diabetes Investig"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3031","article-title":"Exome sequencing as a tool for Mendelian disease gene discovery","volume":"12","author":"Bamshad","year":"2011","journal-title":"Nat Rev Genet"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.2337\/db19-0117","article-title":"Murine perinatal beta-cell proliferation and the differentiation of human stem cell-derived insulin-expressing cells require NEUROD1","volume":"68","author":"Romer","year":"2019","journal-title":"Diabetes"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1007\/s001250100016","article-title":"MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1","volume":"44","author":"Kristinsson","year":"2001","journal-title":"Diabetologia"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.01.002","article-title":"A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing - Clinical characteristics of mutation carriers","volume":"59","author":"Szopa","year":"2016","journal-title":"Eur J Med Genet"},{"key":"B23","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1111\/j.1468-1331.2010.03037.x","article-title":"Genetic epidemiology of Charcot-Marie-Tooth in the general population","volume":"18","author":"Braathen","year":"2011","journal-title":"Eur J Neurol"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000237","article-title":"Update on charcot-marie-tooth disease","volume":"28","author":"Gutmann","year":"2015","journal-title":"Curr Opin Neurol"},{"key":"B25","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1159\/000472166","article-title":"Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study","volume":"4","author":"Nelis","year":"1996","journal-title":"Eur J Hum Genet"},{"key":"B26","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1529-8027.2011.00324.x","article-title":"Charcot-marie-tooth disease","volume":"16","author":"Reilly","year":"2011","journal-title":"J Peripher Nerv Syst"},{"key":"B27","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1038\/nm1023","article-title":"Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease","volume":"10","author":"Passage","year":"2004","journal-title":"Nat Med"},{"key":"B28","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/ana.21026","article-title":"Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy","volume":"61","author":"Meyer zu Horste","year":"2007","journal-title":"Ann Neurol"},{"key":"B29","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/j.nbd.2017.01.006","article-title":"Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo","volume":"100","author":"Lee","year":"2017","journal-title":"Neurobiol Dis"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20143419","article-title":"Charcot-marie-tooth: from molecules to therapy","volume":"20","author":"Morena","year":"2019","journal-title":"Int J Mol Sci"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.251548398","article-title":"Peripheral myelin protein 22 is a constituent of intercellular junctions in epithelia","volume":"98","author":"Notterpek","year":"2001","journal-title":"Proc Natl Acad Sci U.S.A"},{"key":"B32","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.jns.2015.05.037","article-title":"Molecular and clinical features of inherited neuropathies due to PMP22 duplication","volume":"355","author":"Watila","year":"2015","journal-title":"J Neurol Sci"},{"key":"B33","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1385\/MN:30:1:035","article-title":"The role of BETA2\/NeuroD1 in the development of the nervous system","volume":"30","author":"Cho","year":"2004","journal-title":"Mol Neurobiol"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2020.113215","article-title":"NeuroD1 overexpression in spinal neurons accelerates axonal regeneration after sciatic nerve injury","volume":"327","author":"Lai","year":"2020","journal-title":"Exp Neurol"},{"key":"B35","doi-asserted-by":"crossref","DOI":"10.1046\/j.1464-5491.2001.00530-2.x","article-title":"Charcot-Marie-Tooth disease associated with Type 2 diabetes mellitus","volume":"18","author":"Celik","year":"2001","journal-title":"Diabetes Med"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1046\/j.1464-5491.2003.009173.x","article-title":"Marked improvement of glycaemic control with pioglitazone in a Type 2 diabetic patient associated with Charcot-Marie-Tooth disease","volume":"20","author":"Ota","year":"2003","journal-title":"Diabetes Med"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1080\/00207450500341431","article-title":"A large family with Charcot-Marie-Tooth Type 1a and Type 2 diabetes mellitus","volume":"116","author":"Koc","year":"2006","journal-title":"Int J Neurosci"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.4103\/1673-5374.167771","article-title":"Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family","volume":"10","author":"Sun","year":"2015","journal-title":"Neural Regener Res"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23459","article-title":"Coexistence of CMT1A and diabetes mellitus in a young woman with a severe and progressive neuropathy and respiratory insufficiency","volume":"47","author":"Carvalho","year":"2013","journal-title":"Muscle Nerve"},{"key":"B40","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1111\/j.1529-8027.2008.00196.x","article-title":"Diabetes mellitus exacerbates motor and sensory impairment in CMT1A","volume":"13","author":"Sheth","year":"2008","journal-title":"J Peripher Nerv Syst"},{"key":"B41","doi-asserted-by":"publisher","DOI":"10.1111\/jdi.13574","article-title":"Diabetes coexistent with Charcot-Marie-Tooth disease presenting as a recurrent foot ulcer misdiagnosed as diabetic foot: A case report","volume":"12","author":"Yan","year":"2021","journal-title":"J Diabetes Investig"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2025.1502783\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T05:10:40Z","timestamp":1739509840000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2025.1502783\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,14]]},"references-count":41,"alternative-id":["10.3389\/fendo.2025.1502783"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2025.1502783","relation":{},"ISSN":["1664-2392"],"issn-type":[{"type":"electronic","value":"1664-2392"}],"subject":[],"published":{"date-parts":[[2025,2,14]]},"article-number":"1502783"}}