Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism

Neurological Sciences - Tập 42 - Trang 1217-1219 - 2020
Chizuru Ikeda1, Toshitaka Kawarai2, Chisa Setoyama3, Antonio Orlacchio4,5, Hoseki Imamura1
1Department of Paediatrics, National Hospital Organization, Kumamoto Saishun Medical Center, Kumamoto, Japan
2Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan
3Faculty of Medicine-Student Laboratory, Tokushima University Graduate School, Tokushima, Japan
4Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, Rome, Italy
5Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy

Tài liệu tham khảo

Friedrich JK, Panov KI, Cabart P, Russell J, Zomerdijk JCBM (2005) TBP-TAF complex SL1 directs RNA polymerase I pre-initiation complex formation and stabilizes upstream binding factor at the rDNA promoter. J Biol Chem 280:29551–29558. https://doi.org/10.1074/jbc.m501595200 Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O (2017) Heterozygous de novo UBTF gain-of-function variant is associated with neurodegeneration in childhood. Am J Hum Genet 101:267–273. https://doi.org/10.1016/j.ajhg.2017.07.002 Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C, C4RCD Research Group, LeDoux MS (2018) A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Hum Mol Genet 27:691–705. https://doi.org/10.1093/hmg/ddx435 Sedlackova L, Lassuthova P, Sterbova K et al (2019) UBTF mutation causes complex phenotype of neurodegeneration and severe epilepsy in childhood. Neuropediatrics 50:57–60. https://doi.org/10.1055/s-0038-1676288 Bastos F, Quinodoz M, Addor MC, Royer-Bertrand B, Fodstad H, Rivolta C, Poloni C, Superti-Furga A, Roulet-Perez E, Lebon S (2020) Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature. BMC Neurol 20:17. https://doi.org/10.1186/s12883-019-1586-x