Transient neonatal diabetes, a disorder of imprinting


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

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Original Publication URL: http://dx.doi.org/10.1136/jmg.39.12.872

Description/Abstract

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.

Item Type: Article
ISSNs: 0022-2593 (print)
Related URLs:
Keywords: genetic counseling, diabetes mellitus, newborn, review, humans, infant, genetic predisposition to disease, growth, zinc, newborn,differential, uniparental disomy, diseases, physiopathology, pair 6, genomic imprinting, congenital, hospitals, male, diagnosis,human, diagnosis, genetics, chromosome mapping,apoptosis, chromosomes, genes, protein, infant, cell cycle, diabetes
Subjects: R Medicine
R Medicine > RS Pharmacy and materia medica
Divisions: University Structure - Pre August 2011 > School of Medicine
ePrint ID: 60298
Date Deposited: 04 Sep 2008
Last Modified: 27 Mar 2014 18:42
URI: http://eprints.soton.ac.uk/id/eprint/60298

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