PuSH - Publication Server of Helmholtz Zentrum München

Sorrentino, U. ; Mirza-Schreiber, N. ; Pavlov, M. ; Peymani, F. ; Havránková, P.* ; Indelicato, E.* ; Serranová, T.* ; Kunc, L.* ; Lösecke, S.* ; Tilch, E. ; Eck, S. ; Prokisch, H. ; Winkelmann, J. ; Boesch, S.* ; Jech, R.* ; Graf, E.* ; Oexle, K. ; Zech, M.

Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia.

Clin. Epigenet. 18, 7:167 (2026)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Diagnosis of KMT2B-related dystonia remains challenging due to the high prevalence of variants of uncertain significance and technological constraint of short-read pipelines. To overcome these limitations, we integrated nanopore-based long-read sequencing with a validated KMT2B-episignature classifier to perform simultaneous genetic and epigenetic profiling for three cases with prior uncertain KMT2B-related findings. Our workflow detected characteristic deviations in the KMT2B-episignature score in two cases with previously unresolved or missed KMT2B variants, while refuting an ambiguous indel call. Combining genomic-variant detection with DNA-methylation analysis eliminated the need for sequential testing and enhanced accurate diagnosis of KMT2B-related dystonia, offering a basis for streamlined epigenetics-guided diagnostics.
Altmetric
Additional Metrics?
[➜Log in]
Edit extra informations Login
Publication type Article: Journal article
Document type Scientific Article
Keywords Human Genetics ; Indel ; Workflow ; Classifier (uml) ; Dna Sequencing ; Dystonia ; Profiling (computer Programming); Variants; Kmt2b
ISSN (print) / ISBN 1868-7075
e-ISSN 1868-7083
Journal Clinical Epigenetics
Quellenangaben Volume: 18, Issue: 1, Pages: 7, Article Number: 167 Supplement: ,
Publisher Springer
Publishing Place Berlin : Heidelberg
Reviewing status Peer reviewed
Institute(s) Institiute of Neurogenomics (ING)
Grants Technische Universitt Mnchen (1025)