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dc.contributor.authorChambers, C.en
dc.contributor.authorFouts, A.en
dc.contributor.authorDong, F.en
dc.contributor.authorColclough, Kevinen
dc.contributor.authorWang, Z.en
dc.contributor.authorBatish, S. D.en
dc.contributor.authorJaremko, M.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorKlingensmith, G.en
dc.contributor.authorSteck, A. K.en
dc.identifier.citationCharacteristics of maturity onset diabetes of the young in a large diabetes center. 2016, 17 (5):360-7 Pediatr Diabetesen
dc.descriptionPublished as an e-pub ahead of print 8th June 2015.en
dc.description.abstractMaturity onset diabetes of the young (MODY) is a monogenic form of diabetes caused by a mutation in a single gene, often not requiring insulin. The aim of this study was to estimate the frequency and clinical characteristics of MODY at the Barbara Davis Center. A total of 97 subjects with diabetes onset before age 25, a random C-peptide ≥0.1 ng/mL, and negative for all diabetes autoantibodies (GADA, IA-2, ZnT8, and IAA) were enrolled, after excluding 21 subjects with secondary diabetes or refusal to participate. Genetic testing for MODY 1-5 was performed through Athena Diagnostics, and all variants of unknown significance were further analyzed at Exeter, UK. A total of 22 subjects [20 (21%) when excluding two siblings] were found to have a mutation in hepatocyte nuclear factor 4A (n = 4), glucokinase (n = 8), or hepatocyte nuclear factor 1A (n = 10). Of these 22 subjects, 13 had mutations known to be pathogenic and 9 (41%) had novel mutations, predicted to be pathogenic. Only 1 of the 22 subjects had been given the appropriate MODY diagnosis prior to testing. Compared with MODY-negative subjects, the MODY-positive subjects had lower hemoglobin A1c level and no diabetic ketoacidosis at onset; however, these characteristics are not specific for MODY. In summary, this study found a high frequency of MODY mutations with the majority of subjects clinically misdiagnosed. Clinicians should have a high index of suspicion for MODY in youth with antibody-negative diabetes.en
dc.rightsArchived with thanks to Pediatric diabetesen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.subjectWessex Classification Subject Headings::Paediatricsen
dc.titleCharacteristics of maturity onset diabetes of the young in a large diabetes center.en
dc.typeJournal Articleen
dc.identifier.journalPediatric diabetesen
dc.description.noteThis article is freely available via Open Access. Click on the 'Additional Link' above to access the full text via the publisher's site.en
dc.description.funding098395/Wellcome Trust/United Kingdomen

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