The University of Southampton
University of Southampton Institutional Repository

Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region

Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region
Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region
Transient neonatal diabetes mellitus (TNDM) is associated with paternal over-expression of an imprinted locus on chromosome 6q24, which contains one differentially methylated region (DMR); maternal demethylation at the DMR accounts for approximately 20% of cases. Here we report female monozygous triplets, two of whom have TNDM arising from loss of maternal methylation within the TNDM DMR
genomic imprinting, newborn, diabetes, human, report, diabetes mellitus, DNA methylation, non-u.s.gov't, pair 6, humans, research support, microsatellite repeats, netherlands, diseases, genetics, infant, female, chromosomes, methods, triplets, polymerase chain reaction
0340-6717
398-401
Kant, S.G.
ec7029cd-ccec-4aad-a120-92b3496630c6
Van der Weij, A.M.
6924087d-5c6d-4d0d-a985-058cb740da5c
Oostdijk, W.
0a2da0cf-c274-4cc7-acda-3a76402ef502
Wit, J.M.
befc6301-092d-4912-a18d-2584ec4d1173
Robinson, D.O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a
Kant, S.G.
ec7029cd-ccec-4aad-a120-92b3496630c6
Van der Weij, A.M.
6924087d-5c6d-4d0d-a985-058cb740da5c
Oostdijk, W.
0a2da0cf-c274-4cc7-acda-3a76402ef502
Wit, J.M.
befc6301-092d-4912-a18d-2584ec4d1173
Robinson, D.O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a

Kant, S.G., Van der Weij, A.M., Oostdijk, W., Wit, J.M., Robinson, D.O., Temple, I.K. and Mackay, D.J. (2005) Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. Human Genetics, 117 (4), 398-401. (doi:10.1007/s00439-005-1304-1).

Record type: Article

Abstract

Transient neonatal diabetes mellitus (TNDM) is associated with paternal over-expression of an imprinted locus on chromosome 6q24, which contains one differentially methylated region (DMR); maternal demethylation at the DMR accounts for approximately 20% of cases. Here we report female monozygous triplets, two of whom have TNDM arising from loss of maternal methylation within the TNDM DMR

Full text not available from this repository.

More information

Published date: August 2005
Keywords: genomic imprinting, newborn, diabetes, human, report, diabetes mellitus, DNA methylation, non-u.s.gov't, pair 6, humans, research support, microsatellite repeats, netherlands, diseases, genetics, infant, female, chromosomes, methods, triplets, polymerase chain reaction

Identifiers

Local EPrints ID: 59909
URI: http://eprints.soton.ac.uk/id/eprint/59909
ISSN: 0340-6717
PURE UUID: 0c99312e-76aa-4b38-bc10-78a07da4b03c
ORCID for I.K. Temple: ORCID iD orcid.org/0000-0002-6045-1781
ORCID for D.J. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 05 Sep 2008
Last modified: 20 Jul 2019 01:11

Export record

Altmetrics

Contributors

Author: S.G. Kant
Author: A.M. Van der Weij
Author: W. Oostdijk
Author: J.M. Wit
Author: D.O. Robinson
Author: I.K. Temple ORCID iD
Author: D.J. Mackay ORCID iD

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×