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

journal contribution
submitted on 2024-05-26, 09:30 and posted on 2024-05-26, 09:31 authored by I. M. Krzyzewska, S. M. Maas, P. Henneman, K. v. d. Lip, A. Venema, K. Baranano, A. Chassevent, E. Aref-Eshghi, A. J. van Essen, T. Fukuda, H. Ikeda, M. Jacquemont, H.-G. Kim, A. Labalme, S. M. E. Lewis, G. Lesca, I. Madrigal, S. Mahida, N. Matsumoto, R. Rabionet, E. Rajcan-Separovic, Y. Qiao, B. Sadikovic, H. Saitsu, D. A. Sweetser, M. Alders, M. M. A. M. Mannens

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 theSETD1Bgene which may be used as an epigenetic marker supporting the diagnosis of syndromicSETD1B-related diseases. We demonstrate the clinical utility of this unique epi-signature by reclassifying previously identifiedSETD1BVUS (variant of uncertain significance) in two patients.

Other Information

Published in: Clinical Epigenetics
License: http://creativecommons.org/licenses/by/4.0/
See article on publisher's website: https://dx.doi.org/10.1186/s13148-019-0749-3

Funding

Open Access funding provided by the Qatar National Library.

History

Language

  • English

Publisher

Springer Nature

Publication Year

  • 2019

License statement

This Item is licensed under the Creative Commons Attribution 4.0 International License.

Institution affiliated with

  • Hamad Bin Khalifa University
  • Qatar Biomedical Research Institute - HBKU
  • Neurological Disorders Research Center - QBRI

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