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Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders

Lee, Sunwoo; Ochoa, Eguzkine; Barwick, Katy; Cif, Laura; Rodger, Fay; Docquier, France; Pérez-Dueñas, Belén; ... Maher, Eamonn R; + view all (2022) Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders. Epigenomics , 14 (9) pp. 537-547. 10.2217/epi-2021-0521. Green open access

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Abstract

Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-based assay and compared the findings with those in controls and patients with KMT2D-related Kabuki syndrome type 1 (KS1). Results: A total of 1812 significantly differentially methylated CpG positions (false discovery rate < 0.05) were detected in DYT-KMT2B samples compared with controls. Multi-dimensional scaling analysis showed that the 10 DYT-KMT2B samples clustered together and separately from 29 controls and 10 with pathogenic variants in KMT2D. The authors found that most differentially methylated CpG positions were specific to one disorder and that all (DYT-KMT2B) and most (Kabuki syndrome type 1) methylation alterations in CpG islands were gain of methylation events. Conclusion: Using sensitive methylation profiling methodology, the authors replicated recent reports of a methylation episignature for DYT-KMT2B. These findings will facilitate the development of episignature-based assays to improve diagnostic accuracy.

Type: Article
Title: Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.2217/epi-2021-0521
Publisher version: https://doi.org/10.2217/epi-2021-0521
Language: English
Additional information: This work is licensed under the Creative Commons Attribution 4.0 License. To view a copy of this license, visithttp://creativecommons.org/licenses/by/4.0/
Keywords: Kabuki syndrome, chromatin disorders, early-onset dystonia, histone lysine methyltransferases (KMTs), methylation, neurodevelopmental disorder
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > ICH - Laboratory Management
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10167546
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