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:https://doi.org/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. RabionetE. Rajcan-Separovic, Y. Qiao, B. Sadikovic, H. Saitsu, D. A. Sweetser, M. Alders, M. M. A. M. Mannens

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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
Pages (from-to)	156
Journal	Clinical epigenetics
Volume	11
Issue number	1
DOIs	https://doi.org/10.1186/s13148-019-0749-3
Publication status	Published - 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), 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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doi = "https://doi.org/10.1186/s13148-019-0749-3",

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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, pp. 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

Y1 - 2019

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.

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UR - https://www.ncbi.nlm.nih.gov/pubmed/31685013

U2 - https://doi.org/10.1186/s13148-019-0749-3

DO - https://doi.org/10.1186/s13148-019-0749-3

M3 - Article

C2 - 31685013

SN - 1868-7075

VL - 11

SP - 156

JO - Clinical epigenetics

JF - Clinical epigenetics

IS - 1

ER -

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

Abstract

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