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Lookup NU author(s): Professor Judith Goodship
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The expression of imprinted genes is mediated by allele-specific epigenetic modification of genomic DNA and chromatin, including parent of origin-specific DNA methylation. Dysregulation of these genes causes a range of disorders affecting pre- and post-natal growth and neurological function. We investigated a cohort of 12 patients with transient neonatal diabetes whose disease was caused by loss of maternal methylation at the TNDM locus. We found that six of these patients showed a spectrum of methylation loss, mosaic with respect to the extent of the methylation loss, the tissues affected and the genetic loci involved. Five maternally methylated loci were affected, while one maternally methylated and two paternally methylated loci were spared. These patients had higher birth weight and were more phenotypically diverse than other TNDM patients with different aetiologies, presumably reflecting the influence of dysregulation of multiple imprinted genes. We propose the existence of a maternal hypomethylation syndrome, and therefore suggest that any patient with methylation loss at one maternally-methylated locus may also manifest methylation loss at other loci, potentially complicating or even confounding the clinical presentation. © Springer-Verlag 2006.
Author(s): Mackay DJG, Boonen SE, Clayton-Smith J, Goodship J, Hahnemann JMD, Kant SG, Njolstad PR, Robin NH, Robinson DO, Siebert R, Shield JPH, White HE, Temple IK
Publication type: Article
Publication status: Published
Journal: Human Genetics
Year: 2006
Volume: 120
Issue: 2
Pages: 262-269
ISSN (print): 0340-6717
ISSN (electronic): 1432-1203
Publisher: Springer Berlin
URL: http://dx.doi.org/10.1007/s00439-006-0205-2
DOI: 10.1007/s00439-006-0205-2
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