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 principales: Krzyzewska, I. M., Maas, S. M., Henneman, P., Lip, K. v. d., Venema, A., Baranano, K., Chassevent, A., Aref-Eshghi, E., van Essen, A. J., Fukuda, T., Ikeda, H., Jacquemont, M., Kim, H.-G., Labalme, A., Lewis, S. M. E., Lesca, G., Madrigal, I., Mahida, S., Matsumoto, N., Rabionet, R., Rajcan-Separovic, E., Qiao, Y., Sadikovic, B., Saitsu, H., Sweetser, D. A., Alders, M., Mannens, M. M. A. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830011/
https://www.ncbi.nlm.nih.gov/pubmed/31685013
http://dx.doi.org/10.1186/s13148-019-0749-3
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author Krzyzewska, I. M.
Maas, S. M.
Henneman, P.
Lip, K. v. d.
Venema, A.
Baranano, K.
Chassevent, A.
Aref-Eshghi, E.
van Essen, A. J.
Fukuda, T.
Ikeda, H.
Jacquemont, M.
Kim, H.-G.
Labalme, A.
Lewis, S. M. E.
Lesca, G.
Madrigal, I.
Mahida, S.
Matsumoto, N.
Rabionet, R.
Rajcan-Separovic, E.
Qiao, Y.
Sadikovic, B.
Saitsu, H.
Sweetser, D. A.
Alders, M.
Mannens, M. M. A. M.
author_facet Krzyzewska, I. M.
Maas, S. M.
Henneman, P.
Lip, K. v. d.
Venema, A.
Baranano, K.
Chassevent, A.
Aref-Eshghi, E.
van Essen, A. J.
Fukuda, T.
Ikeda, H.
Jacquemont, M.
Kim, H.-G.
Labalme, A.
Lewis, S. M. E.
Lesca, G.
Madrigal, I.
Mahida, S.
Matsumoto, N.
Rabionet, R.
Rajcan-Separovic, E.
Qiao, Y.
Sadikovic, B.
Saitsu, H.
Sweetser, D. A.
Alders, M.
Mannens, M. M. A. M.
author_sort Krzyzewska, I. M.
collection PubMed
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.
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spelling pubmed-68300112019-11-08 A genome-wide DNA methylation signature for SETD1B-related syndrome Krzyzewska, I. M. Maas, S. M. Henneman, P. Lip, K. v. d. Venema, A. Baranano, K. Chassevent, A. Aref-Eshghi, E. van Essen, A. J. Fukuda, T. Ikeda, H. Jacquemont, M. Kim, H.-G. Labalme, A. Lewis, S. M. E. Lesca, G. Madrigal, I. Mahida, S. Matsumoto, N. Rabionet, R. Rajcan-Separovic, E. Qiao, Y. Sadikovic, B. Saitsu, H. Sweetser, D. A. Alders, M. Mannens, M. M. A. M. Clin Epigenetics Research 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. BioMed Central 2019-11-04 /pmc/articles/PMC6830011/ /pubmed/31685013 http://dx.doi.org/10.1186/s13148-019-0749-3 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Krzyzewska, I. M.
Maas, S. M.
Henneman, P.
Lip, K. v. d.
Venema, A.
Baranano, K.
Chassevent, A.
Aref-Eshghi, E.
van Essen, A. J.
Fukuda, T.
Ikeda, H.
Jacquemont, M.
Kim, H.-G.
Labalme, A.
Lewis, S. M. E.
Lesca, G.
Madrigal, I.
Mahida, S.
Matsumoto, N.
Rabionet, R.
Rajcan-Separovic, E.
Qiao, Y.
Sadikovic, B.
Saitsu, H.
Sweetser, D. A.
Alders, M.
Mannens, M. M. A. M.
A genome-wide DNA methylation signature for SETD1B-related syndrome
title 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_short A genome-wide DNA methylation signature for SETD1B-related syndrome
title_sort genome-wide dna methylation signature for setd1b-related syndrome
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830011/
https://www.ncbi.nlm.nih.gov/pubmed/31685013
http://dx.doi.org/10.1186/s13148-019-0749-3
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