dictyNews
Electronic Edition
Volume 42, number 31
December 22, 2016

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=========
Abstracts
=========

Mutations in the histone methyltransferase gene KMT2B cause complex 
early-onset dystonia

Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, 
Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou,
Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen,
David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys,
Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden,
Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, 
Daniel Lumsden, Shane McKee, Shibalik Misra, Shekeeb S Mohammed,
Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall,
Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, 
Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White,
Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, 
Christopher Wragg, Simon Pope, Simon J H Heales, Deborah Morrogh,
UK10K Consortium, Deciphering Developmental Disorders Study,
NIHR BioResource Rare Diseases Consortium, 
Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, 
Andre Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, 
Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, 
Jonathan R Chubb, F Lucy Raymond & Manju A Kurian


Nature Genetics, online 19th December

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.

Submitted by Jonathan Chubb[j.chubb@ucl.ac.uk]
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[End dictyNews, volume 42, number 31]