Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

doi:10.1186/s13148-021-01145-y

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Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

Clinical epigenetics - 11 Aug 2021

Ciolfi Andrea, Foroutan Aidin, Capuano Alessandro, Pedace Lucia, Travaglini Lorena, Pizzi Simone, Andreani Marco, Miele Evelina, Invernizzi Federica, Reale Chiara, Panteghini Celeste, Iascone Maria, Niceta Marcello, Gavrilova Ralitza H, Schultz-Rogers Laura, Agolini Emanuele, Bedeschi Maria Francesca, Prontera Paolo, Garibaldi Matteo, Galosi Serena, Leuzzi Vincenzo, Soliveri Paola, Olson Rory J, Zorzi Giovanna S, Garavaglia Barbara M, Tartaglia Marco, Sadikovic Bekim

Abstract excerpt

BACKGROUND: Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements and/or postures. Heterozygous variants in lysine methyltransferase 2B (KMT2B), encoding a histone H3 methyltransferase, have been associated with a childhood-onset, progressive and complex form of dystonia (dystonia 28,...

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Identifiers

PMID: 34380541
DOI: 10.1186/s13148-021-01145-y
PMCID: PMC8359374

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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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