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Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region

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Abstract

Transient neonatal diabetes mellitus (TNDM) is associated with paternal over-expression of an imprinted locus on chromosome 6q24, which contains one differentially methylated region (DMR); maternal demethylation at the DMR accounts for ~20% of cases. Here we report female monozygous triplets, two of whom have TNDM arising from loss of maternal methylation within the TNDM DMR.

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Acknowledgements

This work was funded by Diabetes UK.

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Authors and Affiliations

  1. Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

    S. G. Kant

  2. Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands

    A. M. van der Weij, W. Oostdijk & J. M. Wit

  3. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK

    D. O. Robinson, I. K. Temple & D. J. G. Mackay

  4. Human Genetics Division, University of Southampton, Southampton, UK

    D. O. Robinson & D. J. G. Mackay

  5. Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton, UK

    I. K. Temple

Authors
  1. S. G. Kant
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  2. A. M. van der Weij
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  3. W. Oostdijk
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  4. J. M. Wit
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  5. D. O. Robinson
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  6. I. K. Temple
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  7. D. J. G. Mackay
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Corresponding author

Correspondence to D. J. G. Mackay.

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Kant, S.G., van der Weij, A.M., Oostdijk, W. et al. Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. Hum Genet 117, 398–401 (2005). https://doi.org/10.1007/s00439-005-1304-1

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  • DOI: https://doi.org/10.1007/s00439-005-1304-1

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