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Mutations in the hi...
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
- Article/chapterEnglish2017
Publisher, publication year, extent ...
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2016-12-19
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Springer Science and Business Media LLC,2017
Numbers
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LIBRIS-ID:oai:gup.ub.gu.se/247911
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https://gup.ub.gu.se/publication/247911URI
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https://doi.org/10.1038/ng.3740DOI
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.
Subject headings and genre
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Carss, Keren J
(author)
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Rankin, Julia
(author)
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Nichols, John M E
(author)
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Grozeva, Detelina
(author)
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Joseph, Agnel P
(author)
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Mencacci, Niccolo E
(author)
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Papandreou, Apostolos
(author)
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Ng, Joanne
(author)
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Barral, Serena
(author)
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Ngoh, Adeline
(author)
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Ben-Pazi, Hilla
(author)
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Willemsen, Michel A
(author)
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Arkadir, David
(author)
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Barnicoat, Angela
(author)
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Bergman, Hagai
(author)
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Bhate, Sanjay
(author)
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Boys, Amber
(author)
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Darin, Niklas,1964Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics(Swepub:gu)xdarin
(author)
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Foulds, Nicola
(author)
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Gutowski, Nicholas
(author)
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Hills, Alison
(author)
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Houlden, Henry
(author)
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Hurst, Jane A
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Israel, Zvi
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Kaminska, Margaret
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Limousin, Patricia
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Lumsden, Daniel
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McKee, Shane
(author)
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Misra, Shibalik
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Mohammed, Shekeeb S
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Nakou, Vasiliki
(author)
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Nicolai, Joost
(author)
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Nilsson, Magnus
(author)
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Pall, Hardev
(author)
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Peall, Kathryn J
(author)
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Peters, Gregory B
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Prabhakar, Prab
(author)
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Reuter, Miriam S
(author)
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Rump, Patrick
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Segel, Reeval
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Sinnema, Margje
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Smith, Martin
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Turnpenny, Peter
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White, Susan M
(author)
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Wieczorek, Dagmar
(author)
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Wiethoff, Sarah
(author)
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Wilson, Brian T
(author)
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Winter, Gidon
(author)
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Wragg, Christopher
(author)
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Pope, Simon
(author)
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Heales, Simon J H
(author)
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Morrogh, Deborah
(author)
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Pittman, Alan
(author)
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Carr, Lucinda J
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Perez-Dueñas, Belen
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Lin, Jean-Pierre
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Reis, Andre
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Gahl, William A
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Toro, Camilo
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Bhatia, Kailash P
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Wood, Nicholas W
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Kamsteeg, Erik-Jan
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Chong, Wui K
(author)
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Gissen, Paul
(author)
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Topf, Maya
(author)
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Dale, Russell C
(author)
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Chubb, Jonathan R
(author)
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Raymond, F Lucy
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Kurian, Manju A
(author)
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Göteborgs universitetInstitutionen för kliniska vetenskaper, Avdelningen för pediatrik
(creator_code:org_t)
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In:Nature genetics: Springer Science and Business Media LLC49, s. 223-2371546-17181061-4036
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Meyer, Esther
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Carss, Keren J
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Rankin, Julia
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Grozeva, Detelin ...
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Joseph, Agnel P
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Mencacci, Niccol ...
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Papandreou, Apos ...
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Ng, Joanne
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Limousin, Patric ...
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Lumsden, Daniel
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Misra, Shibalik
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Mohammed, Shekee ...
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Reuter, Miriam S
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Turnpenny, Peter
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Wilson, Brian T
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Winter, Gidon
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Wragg, Christoph ...
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Pittman, Alan
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Lin, Jean-Pierre
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Gahl, William A
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Wood, Nicholas W
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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Nature genetics
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University of Gothenburg