Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region (original) (raw)
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
- Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
S. G. Kant - Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
A. M. van der Weij, W. Oostdijk & J. M. Wit - Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
D. O. Robinson, I. K. Temple & D. J. G. Mackay - Human Genetics Division, University of Southampton, Southampton, UK
D. O. Robinson & D. J. G. Mackay - Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton, UK
I. K. Temple
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- S. G. Kant
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Correspondence toD. 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
- Received: 20 January 2005
- Accepted: 07 March 2005
- Published: 28 May 2005
- Issue Date: August 2005
- DOI: https://doi.org/10.1007/s00439-005-1304-1