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

ABSTRACT:

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 assessed using the EPIC methylation assay in peripheral blood samples from two subjects with early onset movement disorder and missense variants of uncertain significance in the KMT2B gene (p.Leu1720Phe and p.Tyr2515Cys). After QC and normalization steps, we compared the M values for all 144 probes, previously described as an EpiSign for KMT2B-related dystonia, between the t

SUBMITTER: da Silva Carvalho GF 

PROVIDER: S-EPMC11590325 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature