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

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 prev...

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Detalhes bibliográficos
Autores: 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.
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:España
Recursos:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/157659
Acesso em linha:https://hdl.handle.net/2445/157659
Access Level:acceso abierto
Palavra-chave:Expressió gènica
Malalties
Gene expression
Diseases
Descrição
Resumo: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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