Update on KMT2B-Related Dystonia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Neuroscience
Link
http://link.springer.com/content/pdf/10.1007/s11910-019-1007-y.pdf
Reference46 articles.
1. Deciphering Developmental Disorders S. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519(7542):223–8. https://doi.org/10.1038/nature14135.
2. Epi KC, Epilepsy Phenome/Genome P, Allen AS, Berkovic SF, Cossette P, Delanty N, et al. De novo mutations in epileptic encephalopathies. Nature. 2013;501(7466):217–21. https://doi.org/10.1038/nature12439.
3. Fromer M, Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S, Gormley P, et al. De novo mutations in schizophrenia implicate synaptic networks. Nature. 2014;506(7487):179–84. https://doi.org/10.1038/nature12929.
4. •• Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, et al. Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia. Am J Hum Genet. 2016;99(6):1377–87. https://doi.org/10.1016/j.ajhg.2016.10.010. In four independent families, this study identifies for the first time protein-truncating variants in the epigenetic regulator gene KMT2B as a cause of childhood-onset generalized dystonia. Based on the observations that (1) KMT2B mRNA levels were significantly decreased in patient-derived cells and (2) literature-reported whole-gene deletions of KMT2B were also associated with dystonia, the authors suggest haploinsufficiency as the most likely molecular mechanism of disease.
5. •• Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017;49(2):223–37. https://doi.org/10.1038/ng.3740. Published in parallel with the paper by Zech et al., this work decribes a large cohort of dystonia patients harboring protein-truncating, missense, and deletion mutations in KMT2B. The authors provide detailed genotypic and phenotypic data on 28 individuals with DYT-KMT2B, show that KMT2B mutations result in impaired expression of the dystonia-linked genes TOR1A and THAP1, and highlight deep brain stimulation as a promising treatment option for DYT-KMT2B. In addition, they elaborate on the broad spectrum of non-dystonic KMT2B-related symptoms and demonstrate that hypointense basal ganglia lesions can be seen on brain MRI scans of patients with DYT-KMT2B.
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