References
- 1Shao G-B, Chen J-C, Zhang L-P, Huang P, Lu H-Y, Jin J, et al. Dynamic patterns of histone H3 lysine 4 methyltransferases and demethylases during Mouse preimplantation development. In Vitro Cellular & Developmental Biology - Animal. 2014; 50(7): 603–13. DOI: 10.1007/s11626-014-9741-6
- 2Meyer 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. Nature Genetics. 2016; 49(2): 223–37. DOI: 10.1038/ng.3740
- 3Zech M, Lam DD, Winkelmann J. Update on KMT2B-related dystonia. Current Neurology and Neuroscience Reports. 2019; 19(11). DOI: 10.1007/s11910-019-1007-y
- 4Zech 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. The American Journal of Human Genetics. 2016; 99(6): 1377–87. DOI: 10.1016/j.ajhg.2016.10.010
- 5Zech M, Jech R, Havránková P, Fečíková A, Berutti R, Urgošík D, et al. KMT2B rare missense variants in generalized dystonia. Movement Disorders. 2017; 32(7): 1087–91. DOI: 10.1002/mds.27026
- 6Lange LM, Tunc S, Tennstedt S, Münchau A, Klein C, Assmann B, et al. A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia. Movement Disorders. 2017; 32(10): 1495–7. DOI: 10.1002/mds.27137
- 7Gorman KM, Meyer E, Kurian MA. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. European Journal of Paediatric Neurology. 2018; 22(2): 245–56. DOI: 10.1016/j.ejpn.2017.11.009
- 8Adam MP, Ardinger HH, Pagon RA. KMT2B-Related Dystonia. GeneReviews [Internet]. 2018 Apr 26 [cited 2020May5]; Available from:
https://www.ncbi.nlm.nih.gov/books/NBK493766/ . - 9Adam MP, Ardinger HH, Pagon RA. DYT1 Early-Onset Isolated Dystonia. GeneReviews [Internet]. 1999 Apr 14 [cited 2020May5]; Available from:
https://www.ncbi.nlm.nih.gov/books/NBK1492/ . - 10Adam MP, Ardinger HH, Pagon RA. Hereditary Dystonia Overview. GeneReviews [Internet]. 2003 Oct 28 [cited 2020May5]; Available from:
https://www.ncbi.nlm.nih.gov/books/NBK1155/ . - 11Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016; 536(7616): 285–91. DOI: 10.1038/nature19057
- 12Protein [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [1988] – 2021. Accession No. NP_055542, Homo sapiens histone-lysine N-methyltransferase 2B, protein; [cited 2021Feb12]. Available from:
https://www.ncbi.nlm.nih.gov/protein/NP_055542.1 . - 13Marchler-Bauer A, Derbyshire MK, Gonzales NR, Lu S, Chitsaz F, Geer LY, Geer RC, He J, Gwadz M, Hurwitz DI, Lanczycki CJ, Lu F, Marchler GH, Song JS, Thanki N, Wang Z, Yamashita RA, Zhang D, Zheng C, Bryant SH. CDD: NCBI’s conserved domain database. Nucleic Acids Res. 2015 Jan; 43(Database issue): D222-6. Epub 2014 Nov 20. PMID: 25414356; PMCID: PMC4383992. DOI: 10.1093/nar/gku1221
- 14Zech M, Jech R, Wagner M, Mantel T, Boesch S, Nocker M, et al. Molecular diversity of combined and complex dystonia: Insights from diagnostic exome sequencing. neurogenetics. 2017; 18(4): 195–205. DOI: 10.1007/s10048-017-0521-9
- 15O’Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PYB, Parboosingh JS, et al. TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations. The American Journal of Human Genetics. 2015; 97(6): 922–32. DOI: 10.1016/j.ajhg.2015.11.005
- 16Makino S, Kaji R, Ando S, Tomizawa M, Yasuno K, Goto S, et al. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. The American Journal of Human Genetics. 2007; 80(3): 393–406. DOI: 10.1086/512129
- 17Evidente VG, Nolte D, Niemann S, Advincula J, Mayo MC, Natividad FF, et al. Phenotypic and molecular analyses of X-linked dystonia-parkinsonism (“lubag”) in women. Archives of Neurology. 2004; 61(12). DOI: 10.1001/archneur.61.12.1956
- 18Lee LV, Maranon E, Demaisip C, Peralta O, Borres-Icasiano R, Arancillo J, et al. The natural history of sex-linked recessive dystonia parkinsonism of Panay, Philippines (XDP). Parkinsonism & Related Disorders. 2002; 9(1): 29–38. DOI: 10.1016/S1353-8020(02)00042-1