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Article

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

Epigenomics - 1 May 2022

Lee Sunwoo, Ochoa Eguzkine, Barwick Katy, Cif Laura, Rodger Fay, Docquier France, Pérez-Dueñas Belén, Clark Graeme, Martin Ezequiel, Banka Siddharth, Kurian Manju A, Maher Eamonn R

Abstract excerpt

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...

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Identifiers

PMID: 35506254
DOI: 10.2217/epi-2021-0521

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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