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The prevalence of type 1 diabetes is high in Finnish children but systematic screening for monogenic diabetes has not been conducted. We assessed the prevalence and clinical manifestations of monogenic diabetes in children initially registered with type 1 diabetes in the Finnish Pediatric Diabetes Register (FPDR) but who had no type 1 diabetes-related autoantibodies (AABs) or had only low-titre islet cell autoantibodies (ICAs) at diagnosis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The FPDR, covering approximately 90% of newly diagnosed diabetic individuals aged \u226415 years in Finland starting from 2002, includes data on diabetes-associated HLA genotypes and AAB data (ICA, and autoantibodies against insulin, GAD, islet antigen 2 and zinc transporter 8) at diagnosis. A next generation sequencing gene panel including 42 genes was used to identify monogenic diabetes. We interpreted the variants in <jats:italic>HNF1A<\/jats:italic> by using the gene-specific standardised criteria and reported pathogenic and likely pathogenic findings only. For other genes, we also reported variants of unknown significance if an individual\u2019s phenotype suggested monogenic diabetes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Out of 6482 participants, we sequenced DNA for 152 (2.3%) testing negative for all AABs and 49 (0.8%) positive only for low-titre ICAs (ICA<jats:sub>low<\/jats:sub>). A monogenic form of diabetes was revealed in 19 (12.5%) of the AAB-negative patients (14 [9.2%] had pathogenic or likely pathogenic variants) and two (4.1%) of the ICA<jats:sub>low<\/jats:sub> group. None had ketoacidosis at diagnosis or carried HLA genotypes conferring high risk for type 1 diabetes. The affected genes were <jats:italic>GCK<\/jats:italic>, <jats:italic>HNF1A<\/jats:italic>, <jats:italic>HNF4A<\/jats:italic>, <jats:italic>HNF1B<\/jats:italic>, <jats:italic>INS<\/jats:italic>, <jats:italic>KCNJ11<\/jats:italic>, <jats:italic>RFX6<\/jats:italic>, <jats:italic>LMNA<\/jats:italic> and <jats:italic>WFS1<\/jats:italic>. A switch from insulin to oral medication was successful in four of five patients with variants in <jats:italic>HNF1A<\/jats:italic>, <jats:italic>HNF4A<\/jats:italic> or <jats:italic>KCNJ11.<\/jats:italic><\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions\/interpretation<\/jats:title>\n                <jats:p>More than 10% of AAB-negative children with newly diagnosed diabetes had a genetic finding associated with monogenic diabetes. Because the genetic diagnosis can lead to major changes in treatment, we recommend referring all AAB-negative paediatric patients with diabetes for genetic testing. Low-titre ICAs in the absence of other AABs does not always indicate a diagnosis of type 1 diabetes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Graphical abstract<\/jats:title>\n                \n              <\/jats:sec>","DOI":"10.1007\/s00125-022-05834-y","type":"journal-article","created":{"date-parts":[[2022,11,24]],"date-time":"2022-11-24T14:24:51Z","timestamp":1669299891000},"page":"438-449","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register"],"prefix":"10.1007","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7738-0289","authenticated-orcid":false,"given":"Minna","family":"Harsunen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9995-698X","authenticated-orcid":false,"given":"Jarno L. 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