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Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

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Title: Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Authors: Khan K; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany., Morgan AT; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia., Amor DJ; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia., Skorvanek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan., Hildebrand MS; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia., Jackson VE; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia., Scerri TS; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia., Coleman M; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia., Rigbye KA; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.; University of Melbourne Department of Paediatrics, Royal Children's Hospital, and Florey and Murdoch Children's Research Institute, Parkville, VIC, Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia., Wagner M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany., Lam DD; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Berutti R; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany., Havránková P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic., Fečíková A; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic., Strom TM; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany., Han V; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Dosekova P; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Gdovinova Z; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Laccone F; Institute of Medical Genetics, Medical School of Vienna, Vienna, Austria., Jameel M; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan., Mooney MR; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA., Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan., Jech R; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA. nicholas.katsanis@duke.edu., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany. juliane.winkelmann@tum.de.; Institut für Humangenetik, Technische Universität München, Munich, Germany. juliane.winkelmann@tum.de.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany. juliane.winkelmann@tum.de.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. juliane.winkelmann@tum.de.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2532-2542. Date of Electronic Publication: 2019 Apr 30.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
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  Data: <searchLink fieldCode="AU" term="%22Khan+K%22">Khan K</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Morgan+AT%22">Morgan AT</searchLink>; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.<br /><searchLink fieldCode="AU" term="%22Amor+DJ%22">Amor DJ</searchLink>; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.<br /><searchLink fieldCode="AU" term="%22Skorvanek+M%22">Skorvanek M</searchLink>; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.<br /><searchLink fieldCode="AU" term="%22Khan+TN%22">Khan TN</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Hildebrand+MS%22">Hildebrand MS</searchLink>; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Jackson+VE%22">Jackson VE</searchLink>; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Scerri+TS%22">Scerri TS</searchLink>; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Coleman+M%22">Coleman M</searchLink>; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Rigbye+KA%22">Rigbye KA</searchLink>; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.; University of Melbourne Department of Paediatrics, Royal Children's Hospital, and Florey and Murdoch Children's Research Institute, Parkville, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Bahlo+M%22">Bahlo M</searchLink>; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Lam+DD%22">Lam DD</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Berutti+R%22">Berutti R</searchLink>; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Havránková+P%22">Havránková P</searchLink>; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Fečíková+A%22">Fečíková A</searchLink>; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Strom+TM%22">Strom TM</searchLink>; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Han+V%22">Han V</searchLink>; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.<br /><searchLink fieldCode="AU" term="%22Dosekova+P%22">Dosekova P</searchLink>; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.<br /><searchLink fieldCode="AU" term="%22Gdovinova+Z%22">Gdovinova Z</searchLink>; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.<br /><searchLink fieldCode="AU" term="%22Laccone+F%22">Laccone F</searchLink>; Institute of Medical Genetics, Medical School of Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Jameel+M%22">Jameel M</searchLink>; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Mooney+MR%22">Mooney MR</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Baig+SM%22">Baig SM</searchLink>; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Jech+R%22">Jech R</searchLink>; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Davis+EE%22">Davis EE</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Katsanis+N%22">Katsanis N</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA. nicholas.katsanis@duke.edu.<br /><searchLink fieldCode="AU" term="%22Winkelmann+J%22">Winkelmann J</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany. juliane.winkelmann@tum.de.; Institut für Humangenetik, Technische Universität München, Munich, Germany. juliane.winkelmann@tum.de.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany. juliane.winkelmann@tum.de.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. juliane.winkelmann@tum.de.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2532-2542. <i>Date of Electronic Publication: </i>2019 Apr 30.
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