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Comment
. 2022 Jan;37(1):38.
doi: 10.1002/mds.28877. Epub 2021 Nov 24.

Importance of Methylation Pattern: Episignatures as a Novel Instrument in Diagnostics

Mirja Thomsen  1 , Katja Lohmann  1
Affiliations
Comment

Importance of Methylation Pattern: Episignatures as a Novel Instrument in Diagnostics

Mirja Thomsen et al. Mov Disord. 2022 Jan.
No abstract available

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Comment on

  • Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
    Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K. Mirza-Schreiber N, et al. Brain. 2022 Apr 18;145(2):644-654. doi: 10.1093/brain/awab360. Brain. 2022. PMID: 34590685

References

    1. Aref-Eshghi E, Kerkhof J, Pedro VP, et al. Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 mendelian neurodevelopmental disorders. Am J Hum Genet 2020;106:356-370.
    1. Haghshenas S, Bhai P, Aref-Eshghi E, Sadikovic B. Diagnostic utility of genome-wide DNA methylation analysis in mendelian neurodevelopmental disorders. Int J Mol Sci 2020;21:9303. doi:10.3390/ijms21239303
    1. Mirza-Schreiber N, Zech M, Wilson R, et al. Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. Brain 2021. doi:10.1093/brain/awab360
    1. Zech M, Lam DD, Winkelmann J. Update on KMT2B-related dystonia. Curr Neurol Neurosci Rep 2019;19:1-11.
    1. Lange LM, Junker J, Loens S, et al. Genotype-phenotype relations for isolated dystonia genes: MDSGene systematic review. Mov Disord 2021;2021(36):1086-1103.

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