Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/157659
Title: | A genome-wide DNA methylation signature for SETD1B-related syndrome |
Author: | Krzyzewska, I. M. Maas, S. M. Henneman, Peter Lip, K. V. D. Venema, A. Baranano, K. Chassevent, A. Aref-Eshghi, E. Essen, A. J. van Fukuda, T. Ikeda, H. Jacquemont, M. Kim, H. G. Labalme, Audrey Lewis, S. M. Lesca, Gaetan Madrigal Bajo, Irene Mahida, S. Matsumoto, N. Rabionet Janssen, Raquel Rajcan-Separovic, E. Qiao, Y. Sadikovic, B. Saitsu, H. Sweetser, D. A. Alders, M. Mannens, M. M. A. M. |
Keywords: | Expressió gènica Malalties Gene expression Diseases |
Issue Date: | 4-Nov-2019 |
Publisher: | BioMed Central |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1186/s13148-019-0749-3 |
It is part of: | Clinical Epigenetics, 2019, vol. 11, p. 156 |
URI: | http://hdl.handle.net/2445/157659 |
Related resource: | https://doi.org/10.1186/s13148-019-0749-3 |
ISSN: | 1868-7075 |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) Publicacions de projectes de recerca finançats per la UE |
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