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An atypical case of hypomethylation at multiple imprinted loci

An atypical case of hypomethylation at multiple imprinted loci
An atypical case of hypomethylation at multiple imprinted loci
Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are caused by genetic and epigenetic mutations of the imprinted gene cluster on chromosome 15q13. Although the imprinting mutations causing PWS and AS are essentially opposite in nature, remarkably, a small number of patients have been reported with clinical features of PWS but epigenetic mutations consistent with AS. We report here a patient who presented with clinical features partially consistent with both PWS and Beckwith–Wiedemann syndrome (BWS). Epimutations were found at both the AS/PWS and BWS loci, and additionally at the H19, PEG3, NESPAS and GNAS loci. This patient is therefore the first described case with a primary epimutation consistent with AS accompanied by hypomethylation of other imprinted loci.
1018-4813
360-362
Baple, Emma L.
3069a362-2742-42a5-a7a7-e92a9af6fa88
Poole, Rebecca L.
d8fe00fa-9deb-4a34-a7d8-4b7f57ce82fa
Mansour, Sahar
fcece354-b435-46fb-8acf-184dad0ed4c2
Willoughby, Catherine
e3e9459b-e12a-45e9-9c52-8087b65de666
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Docherty, Louise E.
4accb565-e53b-400f-8d62-83935e2ae410
Taylor, Rohan
7803f376-e223-44ce-94e4-04bb229de4a6
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Baple, Emma L.
3069a362-2742-42a5-a7a7-e92a9af6fa88
Poole, Rebecca L.
d8fe00fa-9deb-4a34-a7d8-4b7f57ce82fa
Mansour, Sahar
fcece354-b435-46fb-8acf-184dad0ed4c2
Willoughby, Catherine
e3e9459b-e12a-45e9-9c52-8087b65de666
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Docherty, Louise E.
4accb565-e53b-400f-8d62-83935e2ae410
Taylor, Rohan
7803f376-e223-44ce-94e4-04bb229de4a6
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a

Baple, Emma L., Poole, Rebecca L., Mansour, Sahar, Willoughby, Catherine, Temple, I. Karen, Docherty, Louise E., Taylor, Rohan and Mackay, Deborah J.G. (2011) An atypical case of hypomethylation at multiple imprinted loci. European Journal of Human Genetics, 19 (3), 360-362. (doi:10.1038/ejhg.2010.218). (PMID:21206512)

Record type: Article

Abstract

Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are caused by genetic and epigenetic mutations of the imprinted gene cluster on chromosome 15q13. Although the imprinting mutations causing PWS and AS are essentially opposite in nature, remarkably, a small number of patients have been reported with clinical features of PWS but epigenetic mutations consistent with AS. We report here a patient who presented with clinical features partially consistent with both PWS and Beckwith–Wiedemann syndrome (BWS). Epimutations were found at both the AS/PWS and BWS loci, and additionally at the H19, PEG3, NESPAS and GNAS loci. This patient is therefore the first described case with a primary epimutation consistent with AS accompanied by hypomethylation of other imprinted loci.

Full text not available from this repository.

More information

Accepted/In Press date: 5 January 2011
Published date: March 2011

Identifiers

Local EPrints ID: 170571
URI: https://eprints.soton.ac.uk/id/eprint/170571
ISSN: 1018-4813
PURE UUID: 903c4c65-30cf-46f5-9226-17a314e994a8
ORCID for Deborah J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 11 Jan 2011 10:14
Last modified: 06 Jun 2018 12:54

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