NDLI: A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

Content Provider	Springer Nature Link
Author	Mackay, D. J. G. Boonen, S. E. Clayton Smith, J. Goodship, J. Hahnemann, J. M. D. Kant, S. G. Njølstad, P. R. Robin, N. H. Robinson, D. O. Siebert, R. Shield, J. P. H. White, H. E. Temple, I. K.
Copyright Year	2006
Abstract	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.
Starting Page	262
Ending Page	269
Page Count	8
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	120
Issue Number	2
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2006-07-01
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Metabolic Diseases Internal Medicine Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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