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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Defects of mutant DNMT1 are linked to a spectrum of neurological disorders</title><author><name sortKey="Baets, Jonathan" sort="Baets, Jonathan" uniqKey="Baets J" first="Jonathan" last="Baets">Jonathan Baets</name><affiliation><nlm:aff id="awv010-AFF1">1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF2">2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF3">3 Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium</nlm:aff></affiliation></author><author><name sortKey="Duan, Xiaohui" sort="Duan, Xiaohui" uniqKey="Duan X" first="Xiaohui" last="Duan">Xiaohui Duan</name><affiliation><nlm:aff id="awv010-AFF4">4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF5">5 Department of Neurology, China-Japan Friendship Hospital, Beijing China</nlm:aff></affiliation></author><author><name sortKey="Wu, Yanhong" sort="Wu, Yanhong" uniqKey="Wu Y" first="Yanhong" last="Wu">Yanhong Wu</name><affiliation><nlm:aff id="awv010-AFF6">6 Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation></author><author><name sortKey="Smith, Gordon" sort="Smith, Gordon" uniqKey="Smith G" first="Gordon" last="Smith">Gordon Smith</name><affiliation><nlm:aff id="awv010-AFF7">7 Department of Neurology, University of Utah, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Seeley, William W" sort="Seeley, William W" uniqKey="Seeley W" first="William W." last="Seeley">William W. Seeley</name><affiliation><nlm:aff id="awv010-AFF8">8 Departments of Neurology and Pathology, University of California San Franciso, California, USA</nlm:aff></affiliation></author><author><name sortKey="Mademan, Ines" sort="Mademan, Ines" uniqKey="Mademan I" first="Inès" last="Mademan">Inès Mademan</name><affiliation><nlm:aff id="awv010-AFF1">1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF2">2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation></author><author><name sortKey="Mcgrath, Nicole M" sort="Mcgrath, Nicole M" uniqKey="Mcgrath N" first="Nicole M." last="Mcgrath">Nicole M. Mcgrath</name><affiliation><nlm:aff id="awv010-AFF9">9 Department of Medicine, Whangarei Hospital, Whangarei, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Beadell, Noah C" sort="Beadell, Noah C" uniqKey="Beadell N" first="Noah C." last="Beadell">Noah C. Beadell</name><affiliation><nlm:aff id="awv010-AFF10">10 Department of Neurology, Oregon Health and Science University, Oregon, WA, USA</nlm:aff></affiliation></author><author><name sortKey="Khoury, Julie" sort="Khoury, Julie" uniqKey="Khoury J" first="Julie" last="Khoury">Julie Khoury</name><affiliation><nlm:aff id="awv010-AFF10">10 Department of Neurology, Oregon Health and Science University, Oregon, WA, USA</nlm:aff></affiliation></author><author><name sortKey="Botuyan, Maria Victoria" sort="Botuyan, Maria Victoria" uniqKey="Botuyan M" first="Maria-Victoria" last="Botuyan">Maria-Victoria Botuyan</name><affiliation><nlm:aff id="awv010-AFF11">11 Department of Biochemistry and Molecular Biology, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation></author><author><name sortKey="Mer, Georges" sort="Mer, Georges" uniqKey="Mer G" first="Georges" last="Mer">Georges Mer</name><affiliation><nlm:aff id="awv010-AFF11">11 Department of Biochemistry and Molecular Biology, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation></author><author><name sortKey="Worrell, Gregory A" sort="Worrell, Gregory A" uniqKey="Worrell G" first="Gregory A." last="Worrell">Gregory A. Worrell</name><affiliation><nlm:aff id="awv010-AFF12">12 Epilepsy Research Laboratory, Department of Neurology, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation></author><author><name sortKey="Hojo, Kaori" sort="Hojo, Kaori" uniqKey="Hojo K" first="Kaori" last="Hojo">Kaori Hojo</name><affiliation><nlm:aff id="awv010-AFF13">13 Harima Sanatorium, Division of Neuropsychiatry, Hyogo, Japan</nlm:aff></affiliation></author><author><name sortKey="Deleon, Jessica" sort="Deleon, Jessica" uniqKey="Deleon J" first="Jessica" last="Deleon">Jessica Deleon</name><affiliation><nlm:aff id="awv010-AFF14">14 Department of Neurology, University of California, San Francisco, California, USA</nlm:aff></affiliation></author><author><name sortKey="Laura, Matilde" sort="Laura, Matilde" uniqKey="Laura M" first="Matilde" last="Laura">Matilde Laura</name><affiliation><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation></author><author><name sortKey="Liu, Yo Tsen" sort="Liu, Yo Tsen" uniqKey="Liu Y" first="Yo-Tsen" last="Liu">Yo-Tsen Liu</name><affiliation><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF17">17 Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF18">18 National Yang-Ming University School of Medicine, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Senderek, Jan" sort="Senderek, Jan" uniqKey="Senderek J" first="Jan" last="Senderek">Jan Senderek</name><affiliation><nlm:aff id="awv010-AFF19">19 Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Weis, Joachim" sort="Weis, Joachim" uniqKey="Weis J" first="Joachim" last="Weis">Joachim Weis</name><affiliation><nlm:aff id="awv010-AFF20">20 Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany</nlm:aff></affiliation></author><author><name sortKey="Van Den Bergh, Peter" sort="Van Den Bergh, Peter" uniqKey="Van Den Bergh P" first="Peter" last="Van Den Bergh">Peter Van Den Bergh</name><affiliation><nlm:aff id="awv010-AFF21">21 Centre de Référence Neuromusculaire, Cliniques universitaires St-Luc, Université de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Merrill, Shana L" sort="Merrill, Shana L" uniqKey="Merrill S" first="Shana L." last="Merrill">Shana L. Merrill</name><affiliation><nlm:aff id="awv010-AFF22">22 Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Reilly, Mary M" sort="Reilly, Mary M" uniqKey="Reilly M" first="Mary M." last="Reilly">Mary M. Reilly</name><affiliation><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation></author><author><name sortKey="Grossman, Murray" sort="Grossman, Murray" uniqKey="Grossman M" first="Murray" last="Grossman">Murray Grossman</name><affiliation><nlm:aff id="awv010-AFF22">22 Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Scherer, Steven S" sort="Scherer, Steven S" uniqKey="Scherer S" first="Steven S." last="Scherer">Steven S. Scherer</name><affiliation><nlm:aff id="awv010-AFF22">22 Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name><affiliation><nlm:aff id="awv010-AFF1">1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF2">2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF3">3 Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium</nlm:aff></affiliation></author><author><name sortKey="Dyck, Peter J" sort="Dyck, Peter J" uniqKey="Dyck P" first="Peter J." last="Dyck">Peter J. Dyck</name><affiliation><nlm:aff id="awv010-AFF4">4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Klein, Christopher J" sort="Klein, Christopher J" uniqKey="Klein C" first="Christopher J." last="Klein">Christopher J. Klein</name><affiliation><nlm:aff id="awv010-AFF4">4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF6">6 Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF23">23 Department of Medical Genetics, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25678562</idno><idno type="pmc">5014076</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014076</idno><idno type="RBID">PMC:5014076</idno><idno type="doi">10.1093/brain/awv010</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">002D00</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002D00</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Defects of mutant DNMT1 are linked to a spectrum of neurological disorders</title><author><name sortKey="Baets, Jonathan" sort="Baets, Jonathan" uniqKey="Baets J" first="Jonathan" last="Baets">Jonathan Baets</name><affiliation><nlm:aff id="awv010-AFF1">1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF2">2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF3">3 Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium</nlm:aff></affiliation></author><author><name sortKey="Duan, Xiaohui" sort="Duan, Xiaohui" uniqKey="Duan X" first="Xiaohui" last="Duan">Xiaohui Duan</name><affiliation><nlm:aff id="awv010-AFF4">4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF5">5 Department of Neurology, China-Japan Friendship Hospital, Beijing China</nlm:aff></affiliation></author><author><name sortKey="Wu, Yanhong" sort="Wu, Yanhong" uniqKey="Wu Y" first="Yanhong" last="Wu">Yanhong Wu</name><affiliation><nlm:aff id="awv010-AFF6">6 Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation></author><author><name sortKey="Smith, Gordon" sort="Smith, Gordon" uniqKey="Smith G" first="Gordon" last="Smith">Gordon Smith</name><affiliation><nlm:aff id="awv010-AFF7">7 Department of Neurology, University of Utah, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Seeley, William W" sort="Seeley, William W" uniqKey="Seeley W" first="William W." last="Seeley">William W. Seeley</name><affiliation><nlm:aff id="awv010-AFF8">8 Departments of Neurology and Pathology, University of California San Franciso, California, USA</nlm:aff></affiliation></author><author><name sortKey="Mademan, Ines" sort="Mademan, Ines" uniqKey="Mademan I" first="Inès" last="Mademan">Inès Mademan</name><affiliation><nlm:aff id="awv010-AFF1">1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF2">2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation></author><author><name sortKey="Mcgrath, Nicole M" sort="Mcgrath, Nicole M" uniqKey="Mcgrath N" first="Nicole M." last="Mcgrath">Nicole M. Mcgrath</name><affiliation><nlm:aff id="awv010-AFF9">9 Department of Medicine, Whangarei Hospital, Whangarei, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Beadell, Noah C" sort="Beadell, Noah C" uniqKey="Beadell N" first="Noah C." last="Beadell">Noah C. Beadell</name><affiliation><nlm:aff id="awv010-AFF10">10 Department of Neurology, Oregon Health and Science University, Oregon, WA, USA</nlm:aff></affiliation></author><author><name sortKey="Khoury, Julie" sort="Khoury, Julie" uniqKey="Khoury J" first="Julie" last="Khoury">Julie Khoury</name><affiliation><nlm:aff id="awv010-AFF10">10 Department of Neurology, Oregon Health and Science University, Oregon, WA, USA</nlm:aff></affiliation></author><author><name sortKey="Botuyan, Maria Victoria" sort="Botuyan, Maria Victoria" uniqKey="Botuyan M" first="Maria-Victoria" last="Botuyan">Maria-Victoria Botuyan</name><affiliation><nlm:aff id="awv010-AFF11">11 Department of Biochemistry and Molecular Biology, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation></author><author><name sortKey="Mer, Georges" sort="Mer, Georges" uniqKey="Mer G" first="Georges" last="Mer">Georges Mer</name><affiliation><nlm:aff id="awv010-AFF11">11 Department of Biochemistry and Molecular Biology, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation></author><author><name sortKey="Worrell, Gregory A" sort="Worrell, Gregory A" uniqKey="Worrell G" first="Gregory A." last="Worrell">Gregory A. Worrell</name><affiliation><nlm:aff id="awv010-AFF12">12 Epilepsy Research Laboratory, Department of Neurology, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation></author><author><name sortKey="Hojo, Kaori" sort="Hojo, Kaori" uniqKey="Hojo K" first="Kaori" last="Hojo">Kaori Hojo</name><affiliation><nlm:aff id="awv010-AFF13">13 Harima Sanatorium, Division of Neuropsychiatry, Hyogo, Japan</nlm:aff></affiliation></author><author><name sortKey="Deleon, Jessica" sort="Deleon, Jessica" uniqKey="Deleon J" first="Jessica" last="Deleon">Jessica Deleon</name><affiliation><nlm:aff id="awv010-AFF14">14 Department of Neurology, University of California, San Francisco, California, USA</nlm:aff></affiliation></author><author><name sortKey="Laura, Matilde" sort="Laura, Matilde" uniqKey="Laura M" first="Matilde" last="Laura">Matilde Laura</name><affiliation><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation></author><author><name sortKey="Liu, Yo Tsen" sort="Liu, Yo Tsen" uniqKey="Liu Y" first="Yo-Tsen" last="Liu">Yo-Tsen Liu</name><affiliation><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF17">17 Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF18">18 National Yang-Ming University School of Medicine, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Senderek, Jan" sort="Senderek, Jan" uniqKey="Senderek J" first="Jan" last="Senderek">Jan Senderek</name><affiliation><nlm:aff id="awv010-AFF19">19 Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Weis, Joachim" sort="Weis, Joachim" uniqKey="Weis J" first="Joachim" last="Weis">Joachim Weis</name><affiliation><nlm:aff id="awv010-AFF20">20 Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany</nlm:aff></affiliation></author><author><name sortKey="Van Den Bergh, Peter" sort="Van Den Bergh, Peter" uniqKey="Van Den Bergh P" first="Peter" last="Van Den Bergh">Peter Van Den Bergh</name><affiliation><nlm:aff id="awv010-AFF21">21 Centre de Référence Neuromusculaire, Cliniques universitaires St-Luc, Université de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Merrill, Shana L" sort="Merrill, Shana L" uniqKey="Merrill S" first="Shana L." last="Merrill">Shana L. Merrill</name><affiliation><nlm:aff id="awv010-AFF22">22 Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Reilly, Mary M" sort="Reilly, Mary M" uniqKey="Reilly M" first="Mary M." last="Reilly">Mary M. Reilly</name><affiliation><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff></affiliation></author><author><name sortKey="Grossman, Murray" sort="Grossman, Murray" uniqKey="Grossman M" first="Murray" last="Grossman">Murray Grossman</name><affiliation><nlm:aff id="awv010-AFF22">22 Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Scherer, Steven S" sort="Scherer, Steven S" uniqKey="Scherer S" first="Steven S." last="Scherer">Steven S. Scherer</name><affiliation><nlm:aff id="awv010-AFF22">22 Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name><affiliation><nlm:aff id="awv010-AFF1">1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF2">2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF3">3 Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium</nlm:aff></affiliation></author><author><name sortKey="Dyck, Peter J" sort="Dyck, Peter J" uniqKey="Dyck P" first="Peter J." last="Dyck">Peter J. Dyck</name><affiliation><nlm:aff id="awv010-AFF4">4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Klein, Christopher J" sort="Klein, Christopher J" uniqKey="Klein C" first="Christopher J." last="Klein">Christopher J. Klein</name><affiliation><nlm:aff id="awv010-AFF4">4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF6">6 Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation><affiliation><nlm:aff id="awv010-AFF23">23 Department of Medical Genetics, Mayo Clinic Rochester MN, USA</nlm:aff></affiliation></author></analytic><series><title level="j">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Baets <italic>et al.</italic> expand the clinical spectrum of hereditary sensory and autonomic neuropathy type 1E (HSAN1E) by studying nine newly identified kinships, and reveal a potential pathogenic mechanism for causative <italic>DNMT1</italic> mutations. Mutant DNMT1 proteins form aggresomes in the cytoplasm, suggesting that aggresome-induced autophagy may contribute to disease pathogenesis.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Brain</journal-id><journal-id journal-id-type="iso-abbrev">Brain</journal-id><journal-id journal-id-type="publisher-id">brainj</journal-id><journal-id journal-id-type="hwp">brain</journal-id><journal-title-group><journal-title>Brain</journal-title></journal-title-group><issn pub-type="ppub">0006-8950</issn><issn pub-type="epub">1460-2156</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25678562</article-id><article-id pub-id-type="pmc">5014076</article-id><article-id pub-id-type="doi">10.1093/brain/awv010</article-id><article-id pub-id-type="publisher-id">awv010</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Articles</subject></subj-group></article-categories><title-group><article-title>Defects of mutant DNMT1 are linked to a spectrum of neurological disorders</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Baets</surname><given-names>Jonathan</given-names></name><xref ref-type="aff" rid="awv010-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv010-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv010-AFF3"><sup>3</sup></xref><xref ref-type="author-notes" rid="awv010-FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Duan</surname><given-names>Xiaohui</given-names></name><xref ref-type="aff" rid="awv010-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv010-AFF5"><sup>5</sup></xref><xref ref-type="author-notes" rid="awv010-FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Wu</surname><given-names>Yanhong</given-names></name><xref ref-type="aff" rid="awv010-AFF6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Smith</surname><given-names>Gordon</given-names></name><xref ref-type="aff" rid="awv010-AFF7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Seeley</surname><given-names>William W.</given-names></name><xref ref-type="aff" rid="awv010-AFF8"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mademan</surname><given-names>Inès</given-names></name><xref ref-type="aff" rid="awv010-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv010-AFF2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>McGrath</surname><given-names>Nicole M.</given-names></name><xref ref-type="aff" rid="awv010-AFF9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Beadell</surname><given-names>Noah C.</given-names></name><xref ref-type="aff" rid="awv010-AFF10"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Khoury</surname><given-names>Julie</given-names></name><xref ref-type="aff" rid="awv010-AFF10"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Botuyan</surname><given-names>Maria-Victoria</given-names></name><xref ref-type="aff" rid="awv010-AFF11"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mer</surname><given-names>Georges</given-names></name><xref ref-type="aff" rid="awv010-AFF11"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Worrell</surname><given-names>Gregory A.</given-names></name><xref ref-type="aff" rid="awv010-AFF12"><sup>12</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hojo</surname><given-names>Kaori</given-names></name><xref ref-type="aff" rid="awv010-AFF13"><sup>13</sup></xref></contrib><contrib contrib-type="author"><name><surname>DeLeon</surname><given-names>Jessica</given-names></name><xref ref-type="aff" rid="awv010-AFF14"><sup>14</sup></xref></contrib><contrib contrib-type="author"><name><surname>Laura</surname><given-names>Matilde</given-names></name><xref ref-type="aff" rid="awv010-AFF15"><sup>15</sup></xref><xref ref-type="aff" rid="awv010-AFF16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Liu</surname><given-names>Yo-Tsen</given-names></name><xref ref-type="aff" rid="awv010-AFF15"><sup>15</sup></xref><xref ref-type="aff" rid="awv010-AFF16"><sup>16</sup></xref><xref ref-type="aff" rid="awv010-AFF17"><sup>17</sup></xref><xref ref-type="aff" rid="awv010-AFF18"><sup>18</sup></xref></contrib><contrib contrib-type="author"><name><surname>Senderek</surname><given-names>Jan</given-names></name><xref ref-type="aff" rid="awv010-AFF19"><sup>19</sup></xref></contrib><contrib contrib-type="author"><name><surname>Weis</surname><given-names>Joachim</given-names></name><xref ref-type="aff" rid="awv010-AFF20"><sup>20</sup></xref></contrib><contrib contrib-type="author"><name><surname>Van den Bergh</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="awv010-AFF21"><sup>21</sup></xref></contrib><contrib contrib-type="author"><name><surname>Merrill</surname><given-names>Shana L.</given-names></name><xref ref-type="aff" rid="awv010-AFF22"><sup>22</sup></xref></contrib><contrib contrib-type="author"><name><surname>Reilly</surname><given-names>Mary M.</given-names></name><xref ref-type="aff" rid="awv010-AFF15"><sup>15</sup></xref><xref ref-type="aff" rid="awv010-AFF16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Houlden</surname><given-names>Henry</given-names></name><xref ref-type="aff" rid="awv010-AFF15"><sup>15</sup></xref><xref ref-type="aff" rid="awv010-AFF16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Grossman</surname><given-names>Murray</given-names></name><xref ref-type="aff" rid="awv010-AFF22"><sup>22</sup></xref></contrib><contrib contrib-type="author"><name><surname>Scherer</surname><given-names>Steven S.</given-names></name><xref ref-type="aff" rid="awv010-AFF22"><sup>22</sup></xref></contrib><contrib contrib-type="author"><name><surname>De Jonghe</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="awv010-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv010-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv010-AFF3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Dyck</surname><given-names>Peter J.</given-names></name><xref ref-type="aff" rid="awv010-AFF4"><sup>4</sup></xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Klein</surname><given-names>Christopher J.</given-names></name><xref ref-type="aff" rid="awv010-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv010-AFF6"><sup>6</sup></xref><xref ref-type="aff" rid="awv010-AFF23"><sup>23</sup></xref></contrib><aff id="awv010-AFF1">1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium</aff><aff id="awv010-AFF2">2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium</aff><aff id="awv010-AFF3">3 Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium</aff><aff id="awv010-AFF4">4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA</aff><aff id="awv010-AFF5">5 Department of Neurology, China-Japan Friendship Hospital, Beijing China</aff><aff id="awv010-AFF6">6 Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN, USA</aff><aff id="awv010-AFF7">7 Department of Neurology, University of Utah, UT, USA</aff><aff id="awv010-AFF8">8 Departments of Neurology and Pathology, University of California San Franciso, California, USA</aff><aff id="awv010-AFF9">9 Department of Medicine, Whangarei Hospital, Whangarei, New Zealand</aff><aff id="awv010-AFF10">10 Department of Neurology, Oregon Health and Science University, Oregon, WA, USA</aff><aff id="awv010-AFF11">11 Department of Biochemistry and Molecular Biology, Mayo Clinic Rochester MN, USA</aff><aff id="awv010-AFF12">12 Epilepsy Research Laboratory, Department of Neurology, Mayo Clinic Rochester MN, USA</aff><aff id="awv010-AFF13">13 Harima Sanatorium, Division of Neuropsychiatry, Hyogo, Japan</aff><aff id="awv010-AFF14">14 Department of Neurology, University of California, San Francisco, California, USA</aff><aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</aff><aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</aff><aff id="awv010-AFF17">17 Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan</aff><aff id="awv010-AFF18">18 National Yang-Ming University School of Medicine, Taipei, Taiwan</aff><aff id="awv010-AFF19">19 Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich, Germany</aff><aff id="awv010-AFF20">20 Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany</aff><aff id="awv010-AFF21">21 Centre de Référence Neuromusculaire, Cliniques universitaires St-Luc, Université de Louvain, Brussels, Belgium</aff><aff id="awv010-AFF22">22 Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA</aff><aff id="awv010-AFF23">23 Department of Medical Genetics, Mayo Clinic Rochester MN, USA</aff></contrib-group><author-notes><corresp id="awv010-COR1">Correspondence to: Christopher J. Klein, MD, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA E-mail: <email>klein.christopher@mayo.edu</email></corresp><fn id="awv010-FN1"><p>*These authors contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><month>4</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>10</day><month>2</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>4</month><year>2016</year></pub-date><pmc-comment> PMC Release delay is 12 months and
0 days and was based on the
<volume>138</volume><issue>4</issue><fpage>845</fpage><lpage>861</lpage><history><date date-type="received"><day>7</day><month>10</month><year>2014</year></date><date date-type="rev-recd"><day>22</day><month>11</month><year>2014</year></date><date date-type="accepted"><day>5</day><month>12</month><year>2014</year></date></history><permissions><copyright-statement>© The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com</copyright-statement><copyright-year>2015</copyright-year></permissions><abstract abstract-type="precis"><p>Baets <italic>et al.</italic> expand the clinical spectrum of hereditary sensory and autonomic neuropathy type 1E (HSAN1E) by studying nine newly identified kinships, and reveal a potential pathogenic mechanism for causative <italic>DNMT1</italic> mutations. Mutant DNMT1 proteins form aggresomes in the cytoplasm, suggesting that aggresome-induced autophagy may contribute to disease pathogenesis.</p></abstract><abstract><p>We report a broader than previously appreciated clinical spectrum for hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and a potential pathogenic mechanism for DNA methyltransferase (DNMT1) mutations. The clinical presentations and genetic characteristics of nine newly identified HSAN1E kinships (45 affected subjects) were investigated. Five novel mutations of DNMT1 were discovered; p.C353F, p.T481P, p.P491L, p.Y524D and p.I531N, all within the target-sequence domain, and two mutations (p.T481P, p.P491L) arising <italic>de novo</italic>. Recently, HSAN1E has been suggested as an allelic disorder of autosomal dominant cerebellar ataxia, deafness and narcolepsy. Our results indicate that all the mutations causal for HSAN1E are located in the middle part or N-terminus end of the TS domain, whereas all the mutations causal for autosomal dominant cerebellar ataxia, deafness and narcolepsy are located in the C-terminus end of the TS domain. The impact of the seven causal mutations in this cohort was studied by cellular localization experiments. The binding efficiency of the mutant DNMT proteins at the replication foci and heterochromatin were evaluated. Phenotypic characterizations included electromyography, brain magnetic resonance and nuclear imaging, electroencephalography, sural nerve biopsies, sleep evaluation and neuropsychometric testing. The average survival of HSAN1E was 53.6 years. [standard deviation = 7.7, range 43–75 years], and mean onset age was 37.7 years. (standard deviation = 8.6, range 18–51 years). Expanded phenotypes include myoclonic seizures, auditory or visual hallucinations, and renal failure. Hypersomnia, rapid eye movement sleep disorder and/or narcolepsy were identified in 11 subjects. Global brain atrophy was found in 12 of 14 who had brain MRI. EEGs showed low frequency (delta waves) frontal-predominant abnormality in five of six patients. Marked variability in cognitive deficits was observed, but the majority of patients (89%) developed significant cognitive deficit by the age of 45 years. Cognitive function decline often started with personality changes and psychiatric manifestations. A triad of hearing loss, sensory neuropathy and cognitive decline remains as the stereotypic presentation of HSAN1E. Moreover, we show that mutant DNMT1 proteins translocate to the cytoplasm and are prone to form aggresomes while losing their binding ability to heterochromatin during the G2 cell cycle. Our results suggest mutations in DNMT1 result in imbalanced protein homeostasis through aggresome-induced autophagy. This mechanism may explain why mutations in the sole DNA maintenance methyltransferase lead to selective central and peripheral neurodegeneration.</p></abstract><kwd-group kwd-group-type="keywords"><kwd>protein aggregation</kwd><kwd>sensory neuropathy</kwd><kwd>narcolepsy</kwd><kwd>REM sleep behaviour disorder</kwd><kwd>neurodegeneration</kwd></kwd-group><counts><page-count count="17"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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