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

ABSTRACT:

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, DYT28). Since 2016, more than one hundred rare KMT2B variants have been reported, including frameshift, nonsense, splice site, missense and other in-frame changes, many having an uncertain clinical impact.

Results

We characterize the genome-wide peripheral blood DNA methylation profiles of a cohort of 18 patients with pathogenic and unclassified KMT2B variants. We resol

SUBMITTER: Ciolfi A 

PROVIDER: S-EPMC8359374 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature