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

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. RabionetE. Rajcan-Separovic, Y. Qiao, B. Sadikovic, H. Saitsu, D. A. Sweetser, M. Alders, M. M.A.M. Mannens

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

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.

Original languageEnglish (US)
Article number156
JournalClinical Epigenetics
Volume11
Issue number1
DOIs
StatePublished - Nov 4 2019

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Developmental Biology
  • Genetics(clinical)

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