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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
- Meyer, Esther (author)
- Carss, Keren J (author)
- Rankin, Julia (author)
- show more...
- Nichols, John M E (author)
- Grozeva, Detelina (author)
- Joseph, Agnel P (author)
- Mencacci, Niccolo E (author)
- Papandreou, Apostolos (author)
- Ng, Joanne (author)
- Barral, Serena (author)
- Ngoh, Adeline (author)
- Ben-Pazi, Hilla (author)
- Willemsen, Michel A (author)
- Arkadir, David (author)
- Barnicoat, Angela (author)
- Bergman, Hagai (author)
- Bhate, Sanjay (author)
- Boys, Amber (author)
- Foulds, Nicola (author)
- Gutowski, Nicholas (author)
- Hills, Alison (author)
- Houlden, Henry (author)
- Hurst, Jane A (author)
- Israel, Zvi (author)
- Kaminska, Margaret (author)
- Limousin, Patricia (author)
- Lumsden, Daniel (author)
- McKee, Shane (author)
- Misra, Shibalik (author)
- Mohammed, Shekeeb S (author)
- Nakou, Vasiliki (author)
- Nicolai, Joost (author)
- Nilsson, Magnus (author)
- Pall, Hardev (author)
- Peall, Kathryn J (author)
- Peters, Gregory B (author)
- Prabhakar, Prab (author)
- Reuter, Miriam S (author)
- Rump, Patrick (author)
- Segel, Reeval (author)
- Sinnema, Margje (author)
- Smith, Martin (author)
- Turnpenny, Peter (author)
- White, Susan M (author)
- Wieczorek, Dagmar (author)
- Wiethoff, Sarah (author)
- Wilson, Brian T (author)
- Winter, Gidon (author)
- Wragg, Christopher (author)
- Pope, Simon (author)
- Heales, Simon J H (author)
- Morrogh, Deborah (author)
- Pittman, Alan (author)
- Carr, Lucinda J (author)
- Perez-Dueñas, Belen (author)
- Lin, Jean-Pierre (author)
- Reis, Andre (author)
- Gahl, William A (author)
- Toro, Camilo (author)
- Bhatia, Kailash P (author)
- Wood, Nicholas W (author)
- Kamsteeg, Erik-Jan (author)
- Chong, Wui K (author)
- Gissen, Paul (author)
- Topf, Maya (author)
- Dale, Russell C (author)
- Chubb, Jonathan R (author)
- Raymond, F Lucy (author)
- Kurian, Manju A (author)
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- (creator_code:org_t)
- 2016-12-19
- 2017
- English.
- In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- 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
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
- Meyer, Esther
- Carss, Keren J
- Rankin, Julia
- Nichols, John M ...
- Grozeva, Detelin ...
- Joseph, Agnel P
- show more...
- Mencacci, Niccol ...
- Papandreou, Apos ...
- Ng, Joanne
- Barral, Serena
- Ngoh, Adeline
- Ben-Pazi, Hilla
- Willemsen, Miche ...
- Arkadir, David
- Barnicoat, Angel ...
- Bergman, Hagai
- Bhate, Sanjay
- Boys, Amber
- Darin, Niklas, 1 ...
- Foulds, Nicola
- Gutowski, Nichol ...
- Hills, Alison
- Houlden, Henry
- Hurst, Jane A
- Israel, Zvi
- Kaminska, Margar ...
- Limousin, Patric ...
- Lumsden, Daniel
- McKee, Shane
- Misra, Shibalik
- Mohammed, Shekee ...
- Nakou, Vasiliki
- Nicolai, Joost
- Nilsson, Magnus
- Pall, Hardev
- Peall, Kathryn J
- Peters, Gregory ...
- Prabhakar, Prab
- Reuter, Miriam S
- Rump, Patrick
- Segel, Reeval
- Sinnema, Margje
- Smith, Martin
- Turnpenny, Peter
- White, Susan M
- Wieczorek, Dagma ...
- Wiethoff, Sarah
- Wilson, Brian T
- Winter, Gidon
- Wragg, Christoph ...
- Pope, Simon
- Heales, Simon J ...
- Morrogh, Deborah
- Pittman, Alan
- Carr, Lucinda J
- Perez-Dueñas, Be ...
- Lin, Jean-Pierre
- Reis, Andre
- Gahl, William A
- Toro, Camilo
- Bhatia, Kailash ...
- Wood, Nicholas W
- Kamsteeg, Erik-J ...
- Chong, Wui K
- Gissen, Paul
- Topf, Maya
- Dale, Russell C
- Chubb, Jonathan ...
- Raymond, F Lucy
- Kurian, Manju A
- show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- Articles in the publication
- Nature genetics
- By the university
- University of Gothenburg
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