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Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting
Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting
This study was an investigation of 90 patients referred to the Wessex Regional Genetics Laboratory for and negative by molecular cytogenetic analysis using array comparative genomic hybridization. This patient cohort represents typical referrals to a regional genetic centre. Methylation analysis was performed at 13 imprinted loci [PLAGL1, IGF2R, MEST, GRB10, H19, IGF2 DMR2 (IGF2P0), KCNQ1OT1 (KvDMR), MEG3, SNRPN, PEG3, GNAS (GNAS exon 1a and NESP55) and GNASAS]. In total 6/90 (6.67%) were shown to have a methylation defect, 2 of which were associated with known imprinting disorders: 1 patient had isolated hypomethylation at IGF2P0, an atypical epigenotype associated with Russell-Silver syndrome, and 1 showed hypomethylation at KvDMR consistent with a diagnosis of Beckwith-Wiedemann syndrome. A further 4 patients, 3 exhibiting complete hypermethylation, and 1 partial hypomethylation, had aberrations at IGF2R, the clinical significance of which remains unclear. This study demonstrates the potential utility of epigenetic investigation in routine diagnostic testing.
imprinting, russell-silver syndrome, beckwith-wiedemann syndrome, array comparative genomic hybridization
1552-4825
1990-1993
Poole, Rebbeca L.
d8fe00fa-9deb-4a34-a7d8-4b7f57ce82fa
Baple, Emma
3c26ed20-f1d8-465c-9c20-badd025bb731
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Temple, I.Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Poole, Rebbeca L.
d8fe00fa-9deb-4a34-a7d8-4b7f57ce82fa
Baple, Emma
3c26ed20-f1d8-465c-9c20-badd025bb731
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Temple, I.Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a

Poole, Rebbeca L., Baple, Emma, Crolla, John A., Temple, I.Karen and Mackay, Deborah J.G. (2010) Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting. American Journal of Medical Genetics: Part A, 152A (8), 1990-1993. (doi:10.1002/ajmg.a.33530).

Record type: Article

Abstract

This study was an investigation of 90 patients referred to the Wessex Regional Genetics Laboratory for and negative by molecular cytogenetic analysis using array comparative genomic hybridization. This patient cohort represents typical referrals to a regional genetic centre. Methylation analysis was performed at 13 imprinted loci [PLAGL1, IGF2R, MEST, GRB10, H19, IGF2 DMR2 (IGF2P0), KCNQ1OT1 (KvDMR), MEG3, SNRPN, PEG3, GNAS (GNAS exon 1a and NESP55) and GNASAS]. In total 6/90 (6.67%) were shown to have a methylation defect, 2 of which were associated with known imprinting disorders: 1 patient had isolated hypomethylation at IGF2P0, an atypical epigenotype associated with Russell-Silver syndrome, and 1 showed hypomethylation at KvDMR consistent with a diagnosis of Beckwith-Wiedemann syndrome. A further 4 patients, 3 exhibiting complete hypermethylation, and 1 partial hypomethylation, had aberrations at IGF2R, the clinical significance of which remains unclear. This study demonstrates the potential utility of epigenetic investigation in routine diagnostic testing.

Full text not available from this repository.

More information

Published date: 15 July 2010
Keywords: imprinting, russell-silver syndrome, beckwith-wiedemann syndrome, array comparative genomic hybridization

Identifiers

Local EPrints ID: 161273
URI: http://eprints.soton.ac.uk/id/eprint/161273
ISSN: 1552-4825
PURE UUID: a9167eb3-1fc0-48ee-8e42-64cd0ba914b2
ORCID for I.Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781
ORCID for Deborah J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 27 Jul 2010 13:25
Last modified: 20 Jul 2019 01:11

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