The University of Southampton
University of Southampton Institutional Repository

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith–Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respectively. Here we describe two patients with a clinical diagnosis of TNDM caused by LOM at the maternally methylated imprinted domain on 6q24; in addition, these patients had LOM at the centromeric differentially methylated region of 11p15.5. This shows that imprinting anomalies can affect more than one imprinted locus and may alter the clinical presentation of imprinted disease.
transient neonatal diabetes mellitus, beckwith–wiedemann syndrome, imprinting, loss of methylation, methylation-specific pcr, pyrosequencing
0340-6717
179-184
Mackay, D.J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Hahnemann, J.M.D.
5977bf56-16ed-4c53-8f23-9b2dd7737fd6
Boonen, S.E.
d1c63e8f-4d38-4ff3-a6fd-f29db9a05e3b
Poerksen, S.
45d747fa-f196-4853-a477-bf8c80fbece4
Bunyan, D.J.
41347b93-e79b-4026-93f9-dd1004cfa05e
White, H.E.
2181c0b9-fc3b-407e-95eb-3510524603e5
Durston, V.J.
644651a0-a93d-478d-a90e-2b1736d1bd09
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Robinson, D.O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a
Shield, J.P.H.
7e45e9e5-0a51-4086-87dc-8d4e2da7e5c8
Clayton-Smith, J.
0d43489e-4266-4b0b-b7fa-bacc180062bd
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Mackay, D.J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Hahnemann, J.M.D.
5977bf56-16ed-4c53-8f23-9b2dd7737fd6
Boonen, S.E.
d1c63e8f-4d38-4ff3-a6fd-f29db9a05e3b
Poerksen, S.
45d747fa-f196-4853-a477-bf8c80fbece4
Bunyan, D.J.
41347b93-e79b-4026-93f9-dd1004cfa05e
White, H.E.
2181c0b9-fc3b-407e-95eb-3510524603e5
Durston, V.J.
644651a0-a93d-478d-a90e-2b1736d1bd09
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Robinson, D.O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a
Shield, J.P.H.
7e45e9e5-0a51-4086-87dc-8d4e2da7e5c8
Clayton-Smith, J.
0d43489e-4266-4b0b-b7fa-bacc180062bd
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226

Mackay, D.J.G., Hahnemann, J.M.D., Boonen, S.E., Poerksen, S., Bunyan, D.J., White, H.E., Durston, V.J., Thomas, N.S., Robinson, D.O., Shield, J.P.H., Clayton-Smith, J. and Temple, I.K. (2006) Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Human Genetics, 119 (1-2), 179-184. (doi:10.1007/s00439-005-0127-4).

Record type: Article

Abstract

Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith–Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respectively. Here we describe two patients with a clinical diagnosis of TNDM caused by LOM at the maternally methylated imprinted domain on 6q24; in addition, these patients had LOM at the centromeric differentially methylated region of 11p15.5. This shows that imprinting anomalies can affect more than one imprinted locus and may alter the clinical presentation of imprinted disease.

Full text not available from this repository.

More information

Published date: 2006
Keywords: transient neonatal diabetes mellitus, beckwith–wiedemann syndrome, imprinting, loss of methylation, methylation-specific pcr, pyrosequencing

Identifiers

Local EPrints ID: 24846
URI: http://eprints.soton.ac.uk/id/eprint/24846
ISSN: 0340-6717
PURE UUID: d659ae3f-6f2a-49f9-bd14-bea5eb9c0ef0
ORCID for D.J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for I.K. Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 04 Apr 2006
Last modified: 17 Dec 2019 01:54

Export record

Altmetrics

Contributors

Author: D.J.G. Mackay ORCID iD
Author: J.M.D. Hahnemann
Author: S.E. Boonen
Author: S. Poerksen
Author: D.J. Bunyan
Author: H.E. White
Author: V.J. Durston
Author: N.S. Thomas
Author: D.O. Robinson
Author: J.P.H. Shield
Author: J. Clayton-Smith
Author: I.K. Temple 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.

×