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    tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy

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    URI
    http://hdl.handle.net/11287/593953
    Author
    Yew, T. W.
    McCreight, L.
    Colclough, Kevin
    Ellard, Sian
    Pearson, E. R.
    Date
    2015-11-03
    Journal
    Diabetic medicine : a journal of the British Diabetic Association
    Type
    Journal Article
    Publisher
    Wiley
    DOI
    10.1111/dme.13024
    Metadata
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    Abstract
    BACKGROUND: A syndrome of young-onset diabetes mellitus associated with microcephaly, epilepsy and intellectual disability caused by mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene has recently been described. CASE REPORT: We report two siblings from the fourth family reported to have diabetes mellitus as a result of a TRMT10A mutation. A homozygous nonsense mutation p.Glu27Ter in TRMT10A was identified using targeted next-generation sequencing and confirmed by PCR/Sanger sequencing. Diabetes was diagnosed while the subjects were in their 20s and was characterized by insulin resistance. Epilepsy and intellectual disability were features in common. Mild microcephaly was present at birth but their final head circumferences were normal. CONCLUSION: Our report provides independent confirmation of the role of TRMT10A mutations in this syndrome and expands its phenotypic description. TRMT10A sequencing should be considered in children or adults with young-onset diabetes who have a history of intellectual disability, microcephaly and epilepsy. This report also shows the advantages of using a targeted panel to identify previously unsuspected monogenic diabetes among young-onset non-insulin-dependent diabetes in the absence of obesity and autoimmunity. This article is protected by copyright. All rights reserved.
    Citation
    Diabet Med. 2016 Sep;33(9):e21-5
    Publisher URL
    http://onlinelibrary.wiley.com/doi/10.1111/dme.13024/abstract
    Note
    This article is available via Open Access. Please click on the 'Additional Link' above to access the full-text.
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