A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes
Beckwith-Wiedemann syndrome (BWS) and Temple syndrome (TS) are classical imprinting disorders (IDs) with nonconfluent clinical features. We report here on a patient with clinical features of both syndromes, in whom epimutations were found at the BWS and TS imprinted regions, consistent with multilocus imprinting disturbance (MLID). This is the first case report of a patient with clinical features of both conditions who was found to have loss of methylation (LOM) of KCNQ1OT1: TSS-DMR (ICR2) in the 11p15 imprinted region associated with BWS and LOM of MEG3: TSS-DMR in the 14q32 imprinted region associated with TS. The report draws attention to the importance of testing for MLID as a cause of atypical clinical presentations of patients with IDs.
Beckwith-Wiedemann, Silver-Russell, Temple, imprinting, multilocus imprinting disturbance
1896-1903
Grosvenor, Sarah E.
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Davies, Justin H.
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Lever, Margaret
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Sillibourne, Julie
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Mackay, Deborah J. G.
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Temple, I. Karen
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June 2022
Grosvenor, Sarah E.
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Davies, Justin H.
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Lever, Margaret
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Sillibourne, Julie
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Mackay, Deborah J. G.
588a653e-9785-4a00-be71-4e547850ee4a
Temple, I. Karen
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Grosvenor, Sarah E., Davies, Justin H., Lever, Margaret, Sillibourne, Julie, Mackay, Deborah J. G. and Temple, I. Karen
(2022)
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes.
American Journal of Medical Genetics part A, 188 (6), .
(doi:10.1002/ajmg.a.62717).
Abstract
Beckwith-Wiedemann syndrome (BWS) and Temple syndrome (TS) are classical imprinting disorders (IDs) with nonconfluent clinical features. We report here on a patient with clinical features of both syndromes, in whom epimutations were found at the BWS and TS imprinted regions, consistent with multilocus imprinting disturbance (MLID). This is the first case report of a patient with clinical features of both conditions who was found to have loss of methylation (LOM) of KCNQ1OT1: TSS-DMR (ICR2) in the 11p15 imprinted region associated with BWS and LOM of MEG3: TSS-DMR in the 14q32 imprinted region associated with TS. The report draws attention to the importance of testing for MLID as a cause of atypical clinical presentations of patients with IDs.
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American J of Med Genetics Pt A - 2022 - Grosvenor - A patient with multilocus imprinting disturbance involving
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Accepted/In Press date: 30 November 2021
e-pub ahead of print date: 9 March 2022
Published date: June 2022
Additional Information:
Funding Information:
The authors thank the patient and his family for their cooperation with the preparation of this manuscript. They are grateful to Dr Gabriella Gazdagh, Wessex Clinical Genetics Service, for performing Face2Gene analysis. Sarah E. Grosvenor acknowledges the support of the MSc Genomic Medicine Programme at Southampton University. NIHR CRN: Wessex and the NIHR Southampton Clinical Research Facility supported the IDFOW study. I. Karen Temple was supported in part by the Southampton NIHR Biomedical Research Centre, UK (2017–2022; IS-BRC-1215-20004). This work was supported in part by the Child Growth Foundation (grant 519026101), University of Southampton.
Publisher Copyright:
© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
Keywords:
Beckwith-Wiedemann, Silver-Russell, Temple, imprinting, multilocus imprinting disturbance
Identifiers
Local EPrints ID: 455982
URI: http://eprints.soton.ac.uk/id/eprint/455982
ISSN: 1552-4825
PURE UUID: 6918df05-ac66-4d18-a5ea-38ca89392e18
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Date deposited: 11 Apr 2022 17:07
Last modified: 17 Mar 2024 02:48
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Contributors
Author:
Sarah E. Grosvenor
Author:
Margaret Lever
Author:
Julie Sillibourne
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