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. Rabionet; E. Rajcan-Separovic; Y. Qiao; B. Sadikovic; H. Saitsu; D. A. Sweetser; M. Alders; M. M.A.M. Mannens

doi:10.1186/s13148-019-0749-3

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. Rabionet

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

^*Corresponding author for this work

QBRI - Neurological Disorders Research Center

University of Amsterdam
Kennedy Krieger Institute
Western University
University of Groningen
Hamamatsu University School of Medicine
National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders
CHU la Reunion-Groupe Hospitalier Sud Reunion
Hospices civils de Lyon
Children's and Women's Health Centre of British Columbia
Hospital Clinic de Barcelona
Yokohama City University
University of Barcelona
Massachusetts General Hospital

Research output: Contribution to journal › Article › peer-review

55 Citations (Scopus)

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 language	English
Article number	156
Journal	Clinical Epigenetics
Volume	11
Issue number	1
DOIs	https://doi.org/10.1186/s13148-019-0749-3
Publication status	Published - 4 Nov 2019

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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., ... Mannens, M. M. A. M. (2019). A genome-wide DNA methylation signature for SETD1B-related syndrome. Clinical Epigenetics, 11(1), Article 156. https://doi.org/10.1186/s13148-019-0749-3

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title = "A genome-wide DNA methylation signature for SETD1B-related syndrome",

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.",

author = "Krzyzewska, \{I. M.\} and Maas, \{S. M.\} and P. Henneman and Lip, \{K. V.D.\} and A. Venema and K. Baranano and A. Chassevent and E. Aref-Eshghi and \{Van Essen\}, \{A. J.\} and T. Fukuda and H. Ikeda and M. Jacquemont and Kim, \{H. G.\} and A. Labalme and Lewis, \{S. M.E.\} and G. Lesca and I. Madrigal and S. Mahida and N. Matsumoto and R. Rabionet and E. Rajcan-Separovic and Y. Qiao and B. Sadikovic and H. Saitsu and Sweetser, \{D. A.\} and M. Alders and Mannens, \{M. M.A.M.\}",

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year = "2019",

month = nov,

day = "4",

doi = "10.1186/s13148-019-0749-3",

language = "English",

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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 2019, 'A genome-wide DNA methylation signature for SETD1B-related syndrome', Clinical Epigenetics, vol. 11, no. 1, 156. https://doi.org/10.1186/s13148-019-0749-3

TY - JOUR

T1 - A genome-wide DNA methylation signature for SETD1B-related syndrome

AU - Krzyzewska, I. M.

AU - Maas, S. M.

AU - Henneman, P.

AU - Lip, K. V.D.

AU - Venema, A.

AU - Baranano, K.

AU - Chassevent, A.

AU - Aref-Eshghi, E.

AU - Van Essen, A. J.

AU - Fukuda, T.

AU - Ikeda, H.

AU - Jacquemont, M.

AU - Kim, H. G.

AU - Labalme, A.

AU - Lewis, S. M.E.

AU - Lesca, G.

AU - Madrigal, I.

AU - Mahida, S.

AU - Matsumoto, N.

AU - Rabionet, R.

AU - Rajcan-Separovic, E.

AU - Qiao, Y.

AU - Sadikovic, B.

AU - Saitsu, H.

AU - Sweetser, D. A.

AU - Alders, M.

AU - Mannens, M. M.A.M.

PY - 2019/11/4

Y1 - 2019/11/4

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85074547395

U2 - 10.1186/s13148-019-0749-3

DO - 10.1186/s13148-019-0749-3

M3 - Article

C2 - 31685013

AN - SCOPUS:85074547395

SN - 1868-7075

VL - 11

JO - Clinical Epigenetics

JF - Clinical Epigenetics

IS - 1

M1 - 156

ER -

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

Abstract

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