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dc.contributor.authorLee, Sunwoo
dc.contributor.authorOchoa, Eguzkine
dc.contributor.authorBarwick, Katy
dc.contributor.authorCif, Laura
dc.contributor.authorRodger, Fay
dc.contributor.authorDocquier, France
dc.contributor.authorPérez-Dueñas, Belén
dc.contributor.authorClark, Graeme
dc.contributor.authorMartin, Ezequiel
dc.contributor.authorBanka, Siddharth
dc.contributor.authorKurian, Manju A
dc.contributor.authorMaher, Eamonn R
dc.date.accessioned2022-05-17T10:00:15Z
dc.date.available2022-05-17T10:00:15Z
dc.date.issued2022-05
dc.date.submitted2021-12-17
dc.identifier.issn1750-1911
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/337233
dc.descriptionFunder: Rosetrees Trust
dc.description.abstractAim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-based assay and compared the findings with those in controls and patients with KMT2D-related Kabuki syndrome type 1 (KS1). Results: A total of 1812 significantly differentially methylated CpG positions (false discovery rate < 0.05) were detected in DYT-KMT2B samples compared with controls. Multi-dimensional scaling analysis showed that the 10 DYT-KMT2B samples clustered together and separately from 29 controls and 10 with pathogenic variants in KMT2D. The authors found that most differentially methylated CpG positions were specific to one disorder and that all (DYT-KMT2B) and most (Kabuki syndrome type 1) methylation alterations in CpG islands were gain of methylation events. Conclusion: Using sensitive methylation profiling methodology, the authors replicated recent reports of a methylation episignature for DYT-KMT2B. These findings will facilitate the development of episignature-based assays to improve diagnostic accuracy.
dc.languageen
dc.publisherFuture Medicine Ltd
dc.subjectResearch Article
dc.subjectchromatin disorders
dc.subjectearly-onset dystonia
dc.subjecthistone lysine methyltransferases (KMTs)
dc.subjectKabuki syndrome
dc.subjectmethylation
dc.subjectneurodevelopmental disorder
dc.titleComparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.
dc.typeArticle
dc.date.updated2022-05-17T10:00:14Z
prism.endingPage547
prism.issueIdentifier9
prism.publicationNameEpigenomics
prism.startingPage537
prism.volume14
dc.identifier.doi10.17863/CAM.84651
dcterms.dateAccepted2022-04-04
rioxxterms.versionofrecord10.2217/epi-2021-0521
rioxxterms.versionVoR
rioxxterms.licenseref.urihttps://www.future-science-group.com/archiving
rioxxterms.licenseref.startdate2023-05-04
dc.contributor.orcidLee, Sunwoo [0000-0003-2806-3268]
dc.contributor.orcidPérez-Dueñas, Belén [0000-0002-4979-2788]
dc.contributor.orcidBanka, Siddharth [0000-0002-8527-2210]
dc.contributor.orcidKurian, Manju A [0000-0003-3529-5075]
dc.contributor.orcidMaher, Eamonn R [0000-0002-6226-6918]
dc.identifier.eissn1750-192X
pubs.funder-project-idNIHR (Cambridge Biomedical Research Centre)
cam.issuedOnline2022-05-04
rioxxterms.freetoread.startdate2023-05-04
rioxxterms.freetoread.startdate2023-05-04


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