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 multiloc...

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Autores principales: Grosvenor, Sarah E., Davies, Justin H., Lever, Margaret, Sillibourne, Julie, Mackay, Deborah J. G., Temple, I. Karen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9310769/
https://www.ncbi.nlm.nih.gov/pubmed/35266280
http://dx.doi.org/10.1002/ajmg.a.62717
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author Grosvenor, Sarah E.
Davies, Justin H.
Lever, Margaret
Sillibourne, Julie
Mackay, Deborah J. G.
Temple, I. Karen
author_facet Grosvenor, Sarah E.
Davies, Justin H.
Lever, Margaret
Sillibourne, Julie
Mackay, Deborah J. G.
Temple, I. Karen
author_sort Grosvenor, Sarah E.
collection PubMed
description 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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spelling pubmed-93107692022-07-29 A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes Grosvenor, Sarah E. Davies, Justin H. Lever, Margaret Sillibourne, Julie Mackay, Deborah J. G. Temple, I. Karen Am J Med Genet A Case Reports 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. John Wiley & Sons, Inc. 2022-03-09 2022-06 /pmc/articles/PMC9310769/ /pubmed/35266280 http://dx.doi.org/10.1002/ajmg.a.62717 Text en © 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Grosvenor, Sarah E.
Davies, Justin H.
Lever, Margaret
Sillibourne, Julie
Mackay, Deborah J. G.
Temple, I. Karen
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes
title A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes
title_full A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes
title_fullStr A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes
title_full_unstemmed A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes
title_short A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes
title_sort patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of beckwith‐wiedemann and temple syndromes
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9310769/
https://www.ncbi.nlm.nih.gov/pubmed/35266280
http://dx.doi.org/10.1002/ajmg.a.62717
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