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    Characteristics of maturity onset diabetes of the young in a large diabetes center.

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    URI
    http://hdl.handle.net/11287/618121
    Author
    Chambers, C.
    Fouts, A.
    Dong, F.
    Colclough, Kevin
    Wang, Z.
    Batish, S. D.
    Jaremko, M.
    Ellard, Sian
    Hattersley, Andrew T.
    Klingensmith, G.
    Steck, A. K.
    Date
    2016-08
    Journal
    Pediatric diabetes
    Type
    Journal Article
    Publisher
    Wiley
    DOI
    10.1111/pedi.12289
    Rights
    Archived with thanks to Pediatric diabetes
    Metadata
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    Abstract
    Maturity 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.
    Citation
    Characteristics of maturity onset diabetes of the young in a large diabetes center. 2016, 17 (5):360-7 Pediatr Diabetes
    Publisher URL
    http://dx.doi.org/10.1111/pedi.12289
    Note
    This article is freely available via Open Access. Click on the 'Additional Link' above to access the full text via the publisher's site.
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    • 2016 RD&E publications
    • Diabetes/Endocrine Services
    • Molecular Genetics

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