{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T16:36:52Z","timestamp":1789663012593,"version":"4.0.1"},"reference-count":56,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T00:00:00Z","timestamp":1730851200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Nanjing Health Science and Technology Development","award":["ZKX22052"],"award-info":[{"award-number":["ZKX22052"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Single gene variants that give rise to neonatal diabetes mellitus (NDM), maturity onset diabetes of the young (MODY), and syndromic forms of diabetes mellitus (SDM) are responsible for 3.1% to 4.2% of all diabetes cases. This single-center study with a relatively larger sample size aimed to evaluate the clinical and genetic characteristics of Chinese children with suspected monogenic diabetes (MD) using next-generation sequencing (NGS) methods.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Materials and Methods<\/jats:title>\n                  <jats:p>Data were collected from 1550 consecutive children diagnosed with diabetes\/hyperglycemia at the Endocrinology Department of Children's Hospital of Nanjing Medical University from 2012 to 2023. The genotype and phenotype of 138 children with suspected MD were retrospectively analyzed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Among 138 children, 16, 97, and 25 patients with NDM, suspected MODY, and SDM, respectively, were assessed by NGS, with a pick-up rate of 87.5%, 57.8%, and 56%, respectively. In total, there was a high pick-up rate of MD, with 58% (80 of 138) among antibody-negative pediatric patients. Pathogenic variants were found in GCK, HNF1A, INS, KCNJ11, INSR, HNF4A, ABCC8, WFS1, ALMS1, HNF1B, BLK, and ZFP57 genes with 13 novel variants in addition to 4 patients with copy number variants. In this cohort, GCK-MODY was the leading cause and the mildest type of MODY. GCK-MODY displayed favorable lipid profile when compared to non-GCK-MODY and MODYX, which might be cardioprotective. Following an accurate genetic diagnosis of diabetes, 19 patients switched from insulin therapy to oral agents or lifestyle interventions.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>NGS tests helped to identify the precise etiology of monogenic diabetic patients, which has implications for better individualized management.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgae779","type":"journal-article","created":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T17:13:43Z","timestamp":1730913223000},"page":"2314-2325","source":"Crossref","is-referenced-by-count":15,"title":["Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients"],"prefix":"10.1210","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1889-6701","authenticated-orcid":false,"given":"Qiaoli","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Children\u2019s Hospital of Nanjing Medical University , Nanjing, 210008 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sama","family":"Samadli","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics, Children\u2019s Hospital of Nanjing Medical University , Nanjing, 210008 ,","place":["China"]},{"name":"Department of Pediatric Diseases II, Azerbaijan Medical University , Baku, AZ1022 ,","place":["Azerbaijan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haoyu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Children\u2019s Hospital of Nanjing Medical University , Nanjing, 210008 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqin","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Children\u2019s Hospital of Nanjing Medical University , Nanjing, 210008 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3457-6545","authenticated-orcid":false,"given":"Bixia","family":"Zheng","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics, Children\u2019s Hospital of Nanjing Medical University , Nanjing, 210008 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7438-4404","authenticated-orcid":false,"given":"Aihua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics, Children\u2019s Hospital of Nanjing Medical University , Nanjing, 210008 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