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2019-11-04

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cc-by (c) Krzyzewska, I.M. et al., 2019
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/157659

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

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

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.

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Expressió gènica, Malalties

Subject (English)

Gene expression, Diseases

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Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Publicacions de projectes de recerca finançats per la UE

Citation

KRZYZEWSKA, I. M., et al. A genome-wide DNA methylation signature for SETD1B-related syndrome. Clinical Epigenetics. 2019. Vol. 11, num. 156. ISSN 1868-7075. [consulted: 15 of August of 2026]. Available at: https://hdl.handle.net/2445/157659

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