A genome-wide DNA methylation signature for SETD1B-related syndrome.

SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense mutations were prev...

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Autores: Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:España
Institución:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p17737
Acceso en línea:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17737
https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-019-0749-3.pdf
Access Level:acceso abierto
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spelling A genome-wide DNA methylation signature for SETD1B-related syndrome.Krzyzewska IMMaas SMHenneman PLip KVDVenema ABaranano KChassevent AAref-Eshghi Evan Essen AJFukuda TIkeda HJacquemont MKim HGLabalme ALewis SMELesca GMadrigal IMahida SMatsumoto NRabionet RRajcan-Separovic EQiao YSadikovic BSaitsu HSweetser DAAlders MMannens MMAMSETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense mutations were previously linked to syndromic intellectual disability (ID). Here, we identify a specific hypermethylation signature associated with loss of function mutations in the SETD1B gene which may be used as an epigenetic marker supporting the diagnosis of syndromic SETD1B-related diseases. We demonstrate the clinical utility of this unique epi-signature by reclassifying previously identified SETD1B VUS (variant of uncertain significance) in two patients.BMC2019info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17737https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-019-0749-3.pdfClinical EpigeneticsISSN: 18687075ISSNe: 18687083reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p177372026-05-27T12:37:41Z
dc.title.none.fl_str_mv A genome-wide DNA methylation signature for SETD1B-related syndrome.
title A genome-wide DNA methylation signature for SETD1B-related syndrome.
spellingShingle A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM
title_short A genome-wide DNA methylation signature for SETD1B-related syndrome.
title_full A genome-wide DNA methylation signature for SETD1B-related syndrome.
title_fullStr A genome-wide DNA methylation signature for SETD1B-related syndrome.
title_full_unstemmed A genome-wide DNA methylation signature for SETD1B-related syndrome.
title_sort A genome-wide DNA methylation signature for SETD1B-related syndrome.
dc.creator.none.fl_str_mv Krzyzewska IM
Maas SM
Henneman P
Lip KVD
Venema A
Baranano K
Chassevent A
Aref-Eshghi E
van Essen AJ
Fukuda T
Ikeda H
Jacquemont M
Kim HG
Labalme A
Lewis SME
Lesca G
Madrigal I
Mahida S
Matsumoto N
Rabionet R
Rajcan-Separovic E
Qiao Y
Sadikovic B
Saitsu H
Sweetser DA
Alders M
Mannens MMAM
author Krzyzewska IM
author_facet Krzyzewska IM
Maas SM
Henneman P
Lip KVD
Venema A
Baranano K
Chassevent A
Aref-Eshghi E
van Essen AJ
Fukuda T
Ikeda H
Jacquemont M
Kim HG
Labalme A
Lewis SME
Lesca G
Madrigal I
Mahida S
Matsumoto N
Rabionet R
Rajcan-Separovic E
Qiao Y
Sadikovic B
Saitsu H
Sweetser DA
Alders M
Mannens MMAM
author_role author
author2 Maas SM
Henneman P
Lip KVD
Venema A
Baranano K
Chassevent A
Aref-Eshghi E
van Essen AJ
Fukuda T
Ikeda H
Jacquemont M
Kim HG
Labalme A
Lewis SME
Lesca G
Madrigal I
Mahida S
Matsumoto N
Rabionet R
Rajcan-Separovic E
Qiao Y
Sadikovic B
Saitsu H
Sweetser DA
Alders M
Mannens MMAM
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
description SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense mutations were previously linked to syndromic intellectual disability (ID). Here, we identify a specific hypermethylation signature associated with loss of function mutations in the SETD1B gene which may be used as an epigenetic marker supporting the diagnosis of syndromic SETD1B-related diseases. We demonstrate the clinical utility of this unique epi-signature by reclassifying previously identified SETD1B VUS (variant of uncertain significance) in two patients.
publishDate 2019
dc.date.none.fl_str_mv 2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17737
https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-019-0749-3.pdf
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17737
https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-019-0749-3.pdf
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv BMC
publisher.none.fl_str_mv BMC
dc.source.none.fl_str_mv Clinical Epigenetics
ISSN: 18687075
ISSNe: 18687083
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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