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dictyNews Volume 42 Number 31
dictyNews
Electronic Edition
Volume 42, number 31
December 22, 2016
Please submit abstracts of your papers as soon as they have been
accepted for publication by sending them to dicty@northwestern.edu
or by using the form at
http://dictybase.org/db/cgi-bin/dictyBase/abstract_submit.
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Abstracts
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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]
