Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region |
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| Authors: | S G Kant A M van der Weij W Oostdijk J M Wit D O Robinson I K Temple D J G Mackay |
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| Institution: | (1) Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;(2) Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands;(3) Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK;(4) Human Genetics Division, University of Southampton, Southampton, UK;(5) Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton, UK |
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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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