Article
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nature genetics - 1 Feb 2017
Meyer Esther, Carss Keren J, Rankin Julia, Nichols John M E, Grozeva Detelina, Joseph Agnel P, Mencacci Niccolo E, Papandreou Apostolos, Ng Joanne, Barral Serena, Ngoh Adeline, Ben-Pazi Hilla, Willemsen Michel A, Arkadir David, Barnicoat Angela, Bergman Hagai, Bhate Sanjay, Boys Amber, Darin Niklas, Foulds Nicola, Gutowski Nicholas, Hills Alison, Houlden Henry, Hurst Jane A, Israel Zvi, Kaminska Margaret, Limousin Patricia, Lumsden Daniel, McKee Shane, Misra Shibalik, Mohammed Shekeeb S, Nakou Vasiliki, Nicolai Joost, Nilsson Magnus, Pall Hardev, Peall Kathryn J, Peters Gregory B, Prabhakar Prab, Reuter Miriam S, Rump Patrick, Segel Reeval, Sinnema Margje, Smith Martin, Turnpenny Peter, White Susan M, Wieczorek Dagmar, Wiethoff Sarah, Wilson Brian T, Winter Gidon, Wragg Christopher, Pope Simon, Heales Simon J H, Morrogh Deborah, Pittman Alan, Carr Lucinda J, Perez-Dueñas Belen, Lin Jean-Pierre, Reis Andre, Gahl William A, Toro Camilo, Bhatia Kailash P, Wood Nicholas W, Kamsteeg Erik-Jan, Chong Wui K, Gissen Paul, Topf Maya, Dale Russell C, Chubb Jonathan R, Raymond F Lucy, Kurian Manju A
Abstract excerpt
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...
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