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Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool

25 Nov 2024

Abstract excerpt

BACKGROUND/OBJECTIVES: KMT2B-related dystonia (DYT28, OMIM #617284) is a progressive neurological condition characterized by early onset movement disorders with autosomal dominant inheritance. In this study, we describe the use of a genome methylation episignature methodology to functionally validate two variants of uncertain significance (VUS) in the KMT2B gene. METHODS: Genome-wide methylation status was...

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PMID: 39587624
DOI: 10.1186/s13148-024-01780-1

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