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Transient neonatal diabetes, a disorder of imprinting

Record type: Article

Transient neonatal diabetes (TND) is a rare but distinct type of diabetes. Classically, neonates present with growth retardation and diabetes in the first week of life. Apparent remission occurs by 3 months but there is a tendency for children to develop diabetes in later life. Evidence suggests it is the result of overexpression of an imprinted and paternally expressed gene/s within the TND critical region at 6q24. Two imprinted genes, ZAC (zinc finger protein associated with apoptosis and cell cycle arrest) and HYMAI (imprinted in hydatidiform mole) have been identified as potential candidates. Three genetic mechanisms have been shown to result in TND, paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, and a methylation defect at a CpG island overlapping exon 1 of ZAC/HYMAI.

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Citation

Temple, I.K. and Shield, J.P. (2002) Transient neonatal diabetes, a disorder of imprinting Journal of Medical Genetics, 39, (12), pp. 872-875. (doi:10.1136/jmg.39.12.872).

More information

Published date: 2002
Keywords: genetic counseling, diabetes mellitus, newborn, review, humans, infant, genetic predisposition to disease, growth, zinc, differential, uniparental disomy, diseases, physiopathology, pair 6, genomic imprinting, congenital, hospitals, male, diagnosis, human, genetics, chromosome mapping, apoptosis, chromosomes, genes, protein, cell cycle, diabetes

Identifiers

Local EPrints ID: 60298
URI: http://eprints.soton.ac.uk/id/eprint/60298
ISSN: 0022-2593
PURE UUID: ae3e2022-21c6-4463-bd33-a02f2c7b27d9

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 17 Jul 2017 14:23

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Contributors

Author: I.K. Temple
Author: J.P. Shield

University divisions


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