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Transient neonatal diabetes, a disorder of imprinting

Transient neonatal diabetes, a disorder of imprinting
Transient neonatal diabetes, a disorder of imprinting
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.
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
0022-2593
872-875
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Shield, J.P.
dcd75ce0-4f58-43d0-bc8f-3c845e287cfd
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Shield, J.P.
dcd75ce0-4f58-43d0-bc8f-3c845e287cfd

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).

Record type: Article

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.

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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
ORCID for I.K. Temple: ORCID iD orcid.org/0000-0002-6045-1781

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Date deposited: 04 Sep 2008
Last modified: 16 Mar 2024 03:03

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Contributors

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

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