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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, <italic>RANBP2</italic></title><author><name sortKey="Neilson, Derek E" sort="Neilson, Derek E" uniqKey="Neilson D" first="Derek E." last="Neilson">Derek E. Neilson</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation></author><author><name sortKey="Adams, Mark D" sort="Adams, Mark D" uniqKey="Adams M" first="Mark D." last="Adams">Mark D. Adams</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Orr, Caitlin M D" sort="Orr, Caitlin M D" uniqKey="Orr C" first="Caitlin M. D." last="Orr">Caitlin M. D. Orr</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Schelling, Deborah K" sort="Schelling, Deborah K" uniqKey="Schelling D" first="Deborah K." last="Schelling">Deborah K. Schelling</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Eiben, Robert M" sort="Eiben, Robert M" uniqKey="Eiben R" first="Robert M." last="Eiben">Robert M. Eiben</name><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation><affiliation><nlm:aff id="aff4"></nlm:aff></affiliation></author><author><name sortKey="Kerr, Douglas S" sort="Kerr, Douglas S" uniqKey="Kerr D" first="Douglas S." last="Kerr">Douglas S. Kerr</name><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation></author><author><name sortKey="Anderson, Jane" sort="Anderson, Jane" uniqKey="Anderson J" first="Jane" last="Anderson">Jane Anderson</name><affiliation><nlm:aff id="aff5"></nlm:aff></affiliation></author><author><name sortKey="Bassuk, Alexander G" sort="Bassuk, Alexander G" uniqKey="Bassuk A" first="Alexander G." last="Bassuk">Alexander G. Bassuk</name><affiliation><nlm:aff id="aff7"></nlm:aff></affiliation></author><author><name sortKey="Bye, Ann M" sort="Bye, Ann M" uniqKey="Bye A" first="Ann M." last="Bye">Ann M. Bye</name><affiliation><nlm:aff id="aff8"></nlm:aff></affiliation></author><author><name sortKey="Childs, Anne Marie" sort="Childs, Anne Marie" uniqKey="Childs A" first="Anne-Marie" last="Childs">Anne-Marie Childs</name><affiliation><nlm:aff id="aff9"></nlm:aff></affiliation></author><author><name sortKey="Clarke, Antonia" sort="Clarke, Antonia" uniqKey="Clarke A" first="Antonia" last="Clarke">Antonia Clarke</name><affiliation><nlm:aff id="aff10"></nlm:aff></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="aff11"></nlm:aff></affiliation></author><author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name><affiliation><nlm:aff id="aff12"></nlm:aff></affiliation></author><author><name sortKey="Dohna Schwake, Christian" sort="Dohna Schwake, Christian" uniqKey="Dohna Schwake C" first="Christian" last="Dohna-Schwake">Christian Dohna-Schwake</name><affiliation><nlm:aff id="aff13"></nlm:aff></affiliation></author><author><name sortKey="Dueckers, Gregor" sort="Dueckers, Gregor" uniqKey="Dueckers G" first="Gregor" last="Dueckers">Gregor Dueckers</name><affiliation><nlm:aff id="aff13"></nlm:aff></affiliation></author><author><name sortKey="Fasano, Alfonso E" sort="Fasano, Alfonso E" uniqKey="Fasano A" first="Alfonso E." last="Fasano">Alfonso E. Fasano</name><affiliation><nlm:aff id="aff14"></nlm:aff></affiliation></author><author><name sortKey="Gika, Artemis D" sort="Gika, Artemis D" uniqKey="Gika A" first="Artemis D." last="Gika">Artemis D. Gika</name><affiliation><nlm:aff id="aff10"></nlm:aff></affiliation></author><author><name sortKey="Gionnis, Dimitris" sort="Gionnis, Dimitris" uniqKey="Gionnis D" first="Dimitris" last="Gionnis">Dimitris Gionnis</name><affiliation><nlm:aff id="aff15"></nlm:aff></affiliation></author><author><name sortKey="Gorman, Mark P" sort="Gorman, Mark P" uniqKey="Gorman M" first="Mark P." last="Gorman">Mark P. Gorman</name><affiliation><nlm:aff id="aff18"></nlm:aff></affiliation></author><author><name sortKey="Grattan Smith, Padraic J" sort="Grattan Smith, Padraic J" uniqKey="Grattan Smith P" first="Padraic J." last="Grattan-Smith">Padraic J. Grattan-Smith</name><affiliation><nlm:aff id="aff8"></nlm:aff></affiliation></author><author><name sortKey="Hackenberg, Annette" sort="Hackenberg, Annette" uniqKey="Hackenberg A" first="Annette" last="Hackenberg">Annette Hackenberg</name><affiliation><nlm:aff id="aff19"></nlm:aff></affiliation></author><author><name sortKey="Kuster, Alice" sort="Kuster, Alice" uniqKey="Kuster A" first="Alice" last="Kuster">Alice Kuster</name><affiliation><nlm:aff id="aff20"></nlm:aff></affiliation></author><author><name sortKey="Lentschig, Markus G" sort="Lentschig, Markus G" uniqKey="Lentschig M" first="Markus G." last="Lentschig">Markus G. Lentschig</name><affiliation><nlm:aff id="aff22"></nlm:aff></affiliation></author><author><name sortKey="Lopez Laso, Eduardo" sort="Lopez Laso, Eduardo" uniqKey="Lopez Laso E" first="Eduardo" last="Lopez-Laso">Eduardo Lopez-Laso</name><affiliation><nlm:aff id="aff23"></nlm:aff></affiliation></author><author><name sortKey="Marco, Elysa J" sort="Marco, Elysa J" uniqKey="Marco E" first="Elysa J." last="Marco">Elysa J. Marco</name><affiliation><nlm:aff id="aff6"></nlm:aff></affiliation></author><author><name sortKey="Mastroyianni, Sotiria" sort="Mastroyianni, Sotiria" uniqKey="Mastroyianni S" first="Sotiria" last="Mastroyianni">Sotiria Mastroyianni</name><affiliation><nlm:aff id="aff16"></nlm:aff></affiliation></author><author><name sortKey="Perrier, Julie" sort="Perrier, Julie" uniqKey="Perrier J" first="Julie" last="Perrier">Julie Perrier</name><affiliation><nlm:aff id="aff21"></nlm:aff></affiliation></author><author><name sortKey="Schmitt Mechelke, Thomas" sort="Schmitt Mechelke, Thomas" uniqKey="Schmitt Mechelke T" first="Thomas" last="Schmitt-Mechelke">Thomas Schmitt-Mechelke</name><affiliation><nlm:aff id="aff24"></nlm:aff></affiliation></author><author><name sortKey="Servidei, Serenella" sort="Servidei, Serenella" uniqKey="Servidei S" first="Serenella" last="Servidei">Serenella Servidei</name><affiliation><nlm:aff id="aff14"></nlm:aff></affiliation></author><author><name sortKey="Skardoutsou, Angeliki" sort="Skardoutsou, Angeliki" uniqKey="Skardoutsou A" first="Angeliki" last="Skardoutsou">Angeliki Skardoutsou</name><affiliation><nlm:aff id="aff17"></nlm:aff></affiliation></author><author><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name><affiliation><nlm:aff id="aff25"></nlm:aff></affiliation></author><author><name sortKey="Van Der Knaap, Marjo S" sort="Van Der Knaap, Marjo S" uniqKey="Van Der Knaap M" first="Marjo S." last="Van Der Knaap">Marjo S. Van Der Knaap</name><affiliation><nlm:aff id="aff26"></nlm:aff></affiliation></author><author><name sortKey="Goglin, Karrie C" sort="Goglin, Karrie C" uniqKey="Goglin K" first="Karrie C." last="Goglin">Karrie C. Goglin</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Tefft, David L" sort="Tefft, David L" uniqKey="Tefft D" first="David L." last="Tefft">David L. Tefft</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Aubin, Cristin" sort="Aubin, Cristin" uniqKey="Aubin C" first="Cristin" last="Aubin">Cristin Aubin</name><affiliation><nlm:aff id="aff27"></nlm:aff></affiliation></author><author><name sortKey="De Jager, Philip" sort="De Jager, Philip" uniqKey="De Jager P" first="Philip" last="De Jager">Philip De Jager</name><affiliation><nlm:aff id="aff28"></nlm:aff></affiliation></author><author><name sortKey="Hafler, David" sort="Hafler, David" uniqKey="Hafler D" first="David" last="Hafler">David Hafler</name><affiliation><nlm:aff id="aff28"></nlm:aff></affiliation></author><author><name sortKey="Warman, Matthew L" sort="Warman, Matthew L" uniqKey="Warman M" first="Matthew L." last="Warman">Matthew L. Warman</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">19118815</idno><idno type="pmc">2668029</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668029</idno><idno type="RBID">PMC:2668029</idno><idno type="doi">10.1016/j.ajhg.2008.12.009</idno><date when="2009">2009</date><idno type="wicri:Area/Pmc/Corpus">001703</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001703</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, <italic>RANBP2</italic></title><author><name sortKey="Neilson, Derek E" sort="Neilson, Derek E" uniqKey="Neilson D" first="Derek E." last="Neilson">Derek E. Neilson</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation></author><author><name sortKey="Adams, Mark D" sort="Adams, Mark D" uniqKey="Adams M" first="Mark D." last="Adams">Mark D. Adams</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Orr, Caitlin M D" sort="Orr, Caitlin M D" uniqKey="Orr C" first="Caitlin M. D." last="Orr">Caitlin M. D. Orr</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Schelling, Deborah K" sort="Schelling, Deborah K" uniqKey="Schelling D" first="Deborah K." last="Schelling">Deborah K. Schelling</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Eiben, Robert M" sort="Eiben, Robert M" uniqKey="Eiben R" first="Robert M." last="Eiben">Robert M. Eiben</name><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation><affiliation><nlm:aff id="aff4"></nlm:aff></affiliation></author><author><name sortKey="Kerr, Douglas S" sort="Kerr, Douglas S" uniqKey="Kerr D" first="Douglas S." last="Kerr">Douglas S. Kerr</name><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation></author><author><name sortKey="Anderson, Jane" sort="Anderson, Jane" uniqKey="Anderson J" first="Jane" last="Anderson">Jane Anderson</name><affiliation><nlm:aff id="aff5"></nlm:aff></affiliation></author><author><name sortKey="Bassuk, Alexander G" sort="Bassuk, Alexander G" uniqKey="Bassuk A" first="Alexander G." last="Bassuk">Alexander G. Bassuk</name><affiliation><nlm:aff id="aff7"></nlm:aff></affiliation></author><author><name sortKey="Bye, Ann M" sort="Bye, Ann M" uniqKey="Bye A" first="Ann M." last="Bye">Ann M. Bye</name><affiliation><nlm:aff id="aff8"></nlm:aff></affiliation></author><author><name sortKey="Childs, Anne Marie" sort="Childs, Anne Marie" uniqKey="Childs A" first="Anne-Marie" last="Childs">Anne-Marie Childs</name><affiliation><nlm:aff id="aff9"></nlm:aff></affiliation></author><author><name sortKey="Clarke, Antonia" sort="Clarke, Antonia" uniqKey="Clarke A" first="Antonia" last="Clarke">Antonia Clarke</name><affiliation><nlm:aff id="aff10"></nlm:aff></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="aff11"></nlm:aff></affiliation></author><author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name><affiliation><nlm:aff id="aff12"></nlm:aff></affiliation></author><author><name sortKey="Dohna Schwake, Christian" sort="Dohna Schwake, Christian" uniqKey="Dohna Schwake C" first="Christian" last="Dohna-Schwake">Christian Dohna-Schwake</name><affiliation><nlm:aff id="aff13"></nlm:aff></affiliation></author><author><name sortKey="Dueckers, Gregor" sort="Dueckers, Gregor" uniqKey="Dueckers G" first="Gregor" last="Dueckers">Gregor Dueckers</name><affiliation><nlm:aff id="aff13"></nlm:aff></affiliation></author><author><name sortKey="Fasano, Alfonso E" sort="Fasano, Alfonso E" uniqKey="Fasano A" first="Alfonso E." last="Fasano">Alfonso E. Fasano</name><affiliation><nlm:aff id="aff14"></nlm:aff></affiliation></author><author><name sortKey="Gika, Artemis D" sort="Gika, Artemis D" uniqKey="Gika A" first="Artemis D." last="Gika">Artemis D. Gika</name><affiliation><nlm:aff id="aff10"></nlm:aff></affiliation></author><author><name sortKey="Gionnis, Dimitris" sort="Gionnis, Dimitris" uniqKey="Gionnis D" first="Dimitris" last="Gionnis">Dimitris Gionnis</name><affiliation><nlm:aff id="aff15"></nlm:aff></affiliation></author><author><name sortKey="Gorman, Mark P" sort="Gorman, Mark P" uniqKey="Gorman M" first="Mark P." last="Gorman">Mark P. Gorman</name><affiliation><nlm:aff id="aff18"></nlm:aff></affiliation></author><author><name sortKey="Grattan Smith, Padraic J" sort="Grattan Smith, Padraic J" uniqKey="Grattan Smith P" first="Padraic J." last="Grattan-Smith">Padraic J. Grattan-Smith</name><affiliation><nlm:aff id="aff8"></nlm:aff></affiliation></author><author><name sortKey="Hackenberg, Annette" sort="Hackenberg, Annette" uniqKey="Hackenberg A" first="Annette" last="Hackenberg">Annette Hackenberg</name><affiliation><nlm:aff id="aff19"></nlm:aff></affiliation></author><author><name sortKey="Kuster, Alice" sort="Kuster, Alice" uniqKey="Kuster A" first="Alice" last="Kuster">Alice Kuster</name><affiliation><nlm:aff id="aff20"></nlm:aff></affiliation></author><author><name sortKey="Lentschig, Markus G" sort="Lentschig, Markus G" uniqKey="Lentschig M" first="Markus G." last="Lentschig">Markus G. Lentschig</name><affiliation><nlm:aff id="aff22"></nlm:aff></affiliation></author><author><name sortKey="Lopez Laso, Eduardo" sort="Lopez Laso, Eduardo" uniqKey="Lopez Laso E" first="Eduardo" last="Lopez-Laso">Eduardo Lopez-Laso</name><affiliation><nlm:aff id="aff23"></nlm:aff></affiliation></author><author><name sortKey="Marco, Elysa J" sort="Marco, Elysa J" uniqKey="Marco E" first="Elysa J." last="Marco">Elysa J. Marco</name><affiliation><nlm:aff id="aff6"></nlm:aff></affiliation></author><author><name sortKey="Mastroyianni, Sotiria" sort="Mastroyianni, Sotiria" uniqKey="Mastroyianni S" first="Sotiria" last="Mastroyianni">Sotiria Mastroyianni</name><affiliation><nlm:aff id="aff16"></nlm:aff></affiliation></author><author><name sortKey="Perrier, Julie" sort="Perrier, Julie" uniqKey="Perrier J" first="Julie" last="Perrier">Julie Perrier</name><affiliation><nlm:aff id="aff21"></nlm:aff></affiliation></author><author><name sortKey="Schmitt Mechelke, Thomas" sort="Schmitt Mechelke, Thomas" uniqKey="Schmitt Mechelke T" first="Thomas" last="Schmitt-Mechelke">Thomas Schmitt-Mechelke</name><affiliation><nlm:aff id="aff24"></nlm:aff></affiliation></author><author><name sortKey="Servidei, Serenella" sort="Servidei, Serenella" uniqKey="Servidei S" first="Serenella" last="Servidei">Serenella Servidei</name><affiliation><nlm:aff id="aff14"></nlm:aff></affiliation></author><author><name sortKey="Skardoutsou, Angeliki" sort="Skardoutsou, Angeliki" uniqKey="Skardoutsou A" first="Angeliki" last="Skardoutsou">Angeliki Skardoutsou</name><affiliation><nlm:aff id="aff17"></nlm:aff></affiliation></author><author><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name><affiliation><nlm:aff id="aff25"></nlm:aff></affiliation></author><author><name sortKey="Van Der Knaap, Marjo S" sort="Van Der Knaap, Marjo S" uniqKey="Van Der Knaap M" first="Marjo S." last="Van Der Knaap">Marjo S. Van Der Knaap</name><affiliation><nlm:aff id="aff26"></nlm:aff></affiliation></author><author><name sortKey="Goglin, Karrie C" sort="Goglin, Karrie C" uniqKey="Goglin K" first="Karrie C." last="Goglin">Karrie C. Goglin</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Tefft, David L" sort="Tefft, David L" uniqKey="Tefft D" first="David L." last="Tefft">David L. Tefft</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Aubin, Cristin" sort="Aubin, Cristin" uniqKey="Aubin C" first="Cristin" last="Aubin">Cristin Aubin</name><affiliation><nlm:aff id="aff27"></nlm:aff></affiliation></author><author><name sortKey="De Jager, Philip" sort="De Jager, Philip" uniqKey="De Jager P" first="Philip" last="De Jager">Philip De Jager</name><affiliation><nlm:aff id="aff28"></nlm:aff></affiliation></author><author><name sortKey="Hafler, David" sort="Hafler, David" uniqKey="Hafler D" first="David" last="Hafler">David Hafler</name><affiliation><nlm:aff id="aff28"></nlm:aff></affiliation></author><author><name sortKey="Warman, Matthew L" sort="Warman, Matthew L" uniqKey="Warman M" first="Matthew L." last="Warman">Matthew L. Warman</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such as influenza and parainfluenza. Most ANE is sporadic and nonrecurrent (isolated ANE). However, we identified a 7 Mb interval containing a susceptibility locus (<italic>ANE1</italic>) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant trait. We now report that all affected individuals and obligate carriers in this family are heterozygous for a missense mutation (c.1880C→T, p.Thr585Met) in the gene encoding the nuclear pore protein Ran Binding Protein 2 (<italic>RANBP2</italic>). To determine whether this mutation is the susceptibility allele, we screened controls and other patients with ANE who are unrelated to the index family. Patients from 9 of 15 additional kindreds with familial or recurrent ANE had the identical mutation. It arose de novo in two families and independently in several other families. Two other patients with familial ANE had different <italic>RANBP2</italic> missense mutations that altered conserved residues. None of the three <italic>RANBP2</italic> missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude that missense mutations in <italic>RANBP2</italic> are susceptibility alleles for familial and recurrent cases of ANE.</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">Am J Hum Genet</journal-id><journal-title>American Journal of Human Genetics</journal-title><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>American Society of Human Genetics</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">19118815</article-id><article-id pub-id-type="pmc">2668029</article-id><article-id pub-id-type="publisher-id">AJHG311</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2008.12.009</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, <italic>RANBP2</italic></article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Neilson</surname><given-names>Derek E.</given-names></name><email>derek.neilson@cchmc.org</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">29</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib><contrib contrib-type="author"><name><surname>Adams</surname><given-names>Mark D.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Orr</surname><given-names>Caitlin M.D.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Schelling</surname><given-names>Deborah K.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Eiben</surname><given-names>Robert M.</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Kerr</surname><given-names>Douglas S.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Anderson</surname><given-names>Jane</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Bassuk</surname><given-names>Alexander G.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Bye</surname><given-names>Ann M.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Childs</surname><given-names>Anne-Marie</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Clarke</surname><given-names>Antonia</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Crow</surname><given-names>Yanick J.</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Di Rocco</surname><given-names>Maja</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Dohna-Schwake</surname><given-names>Christian</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Dueckers</surname><given-names>Gregor</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Fasano</surname><given-names>Alfonso E.</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Gika</surname><given-names>Artemis D.</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Gionnis</surname><given-names>Dimitris</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Gorman</surname><given-names>Mark P.</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Grattan-Smith</surname><given-names>Padraic J.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Hackenberg</surname><given-names>Annette</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Kuster</surname><given-names>Alice</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Lentschig</surname><given-names>Markus G.</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Lopez-Laso</surname><given-names>Eduardo</given-names></name><xref rid="aff23" ref-type="aff">23</xref></contrib><contrib contrib-type="author"><name><surname>Marco</surname><given-names>Elysa J.</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Mastroyianni</surname><given-names>Sotiria</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Perrier</surname><given-names>Julie</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Schmitt-Mechelke</surname><given-names>Thomas</given-names></name><xref rid="aff24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Servidei</surname><given-names>Serenella</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Skardoutsou</surname><given-names>Angeliki</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Uldall</surname><given-names>Peter</given-names></name><xref rid="aff25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>van der Knaap</surname><given-names>Marjo S.</given-names></name><xref rid="aff26" ref-type="aff">26</xref></contrib><contrib contrib-type="author"><name><surname>Goglin</surname><given-names>Karrie C.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn2" ref-type="fn">30</xref></contrib><contrib contrib-type="author"><name><surname>Tefft</surname><given-names>David L.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn3" ref-type="fn">31</xref></contrib><contrib contrib-type="author"><name><surname>Aubin</surname><given-names>Cristin</given-names></name><xref rid="aff27" ref-type="aff">27</xref></contrib><contrib contrib-type="author"><name><surname>de Jager</surname><given-names>Philip</given-names></name><xref rid="aff28" ref-type="aff">28</xref></contrib><contrib contrib-type="author"><name><surname>Hafler</surname><given-names>David</given-names></name><xref rid="aff28" ref-type="aff">28</xref></contrib><contrib contrib-type="author"><name><surname>Warman</surname><given-names>Matthew L.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn4" ref-type="fn">32</xref></contrib></contrib-group><aff id="aff1"><addr-line><sup>1</sup>Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USA</addr-line></aff><aff id="aff2"><addr-line><sup>2</sup>Center for Human Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USA</addr-line></aff><aff id="aff3"><addr-line><sup>3</sup>Department of Pediatrics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USA</addr-line></aff><aff id="aff4"><addr-line><sup>4</sup>MetroHealth Medical Center, Cleveland, OH 44109, USA</addr-line></aff><aff id="aff5"><addr-line><sup>5</sup>Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94118, USA</addr-line></aff><aff id="aff6"><addr-line><sup>6</sup>Division of Child Neurology, University of California, San Francisco, San Francisco, CA 94118, USA</addr-line></aff><aff id="aff7"><addr-line><sup>7</sup>Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, IA 52242, USA</addr-line></aff><aff id="aff8"><addr-line><sup>8</sup>Sydney Children's Hospital, Randwick, NSW 2031, Australia</addr-line></aff><aff id="aff9"><addr-line><sup>9</sup>Department of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds LS2 9NS, UK</addr-line></aff><aff id="aff10"><addr-line><sup>10</sup>Department of Paediatric Neurology, St George's Hospital, London SW17 OQT, UK</addr-line></aff><aff id="aff11"><addr-line><sup>11</sup>Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds LS9 7TF, UK</addr-line></aff><aff id="aff12"><addr-line><sup>12</sup>Unit of Rare Diseases, II Division of Pediatrics, Gaslini Institute, Genoa 16147, Italy</addr-line></aff><aff id="aff13"><addr-line><sup>13</sup>Department of Pediatrics, Neuropediatrics, Neonatal and Pediatric Intensive Care, University Children's Hospital Essen, D-45130 Essen, Germany</addr-line></aff><aff id="aff14"><addr-line><sup>14</sup>Department of Neurology, Gemelli Hospital, Catholic University of Sacred Heart, Rome 00168, Italy</addr-line></aff><aff id="aff15"><addr-line><sup>15</sup>Pediatric Intensive Care Unit, University of Athens, “P & A Kyriakou” Children's Hospital, Athens 11527, Greece</addr-line></aff><aff id="aff16"><addr-line><sup>16</sup>Department of Neurology, University of Athens, “P & A Kyriakou” Children's Hospital, Athens 11527, Greece</addr-line></aff><aff id="aff17"><addr-line><sup>17</sup>Second Department of Pediatrics, University of Athens, “P & A Kyriakou” Children's Hospital, Athens 11527, Greece</addr-line></aff><aff id="aff18"><addr-line><sup>18</sup>Department of Neurology, Children's Hospital Boston, Boston, MA 02115, USA</addr-line></aff><aff id="aff19"><addr-line><sup>19</sup>Professor-Hess-Kinderklinik, Klinikum Bremen-Mitte, Bremen 28177, Germany</addr-line></aff><aff id="aff20"><addr-line><sup>20</sup>Metabolic Unit, University Hospital of Nantes, Nantes F-44093, France</addr-line></aff><aff id="aff21"><addr-line><sup>21</sup>Department of Paediatric Neurology, University Hospital of Nantes, Nantes F-44093, France</addr-line></aff><aff id="aff22"><addr-line><sup>22</sup>MR and PET-CT centre Bremen-Mitte, Bremen 28177, Germany</addr-line></aff><aff id="aff23"><addr-line><sup>23</sup>Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, Córdoba 14004, Spain</addr-line></aff><aff id="aff24"><addr-line><sup>24</sup>Neuropediatric Department, Children's Hospital, Lucerne CH-6000, Switzerland</addr-line></aff><aff id="aff25"><addr-line><sup>25</sup>Department of Child Neurology, Rigshospitalet, Copenhagen DK-2100, Denmark</addr-line></aff><aff id="aff26"><addr-line><sup>26</sup>Department of Child Neurology, VU University Medical Center, Amsterdam 1081 HV, The Netherlands</addr-line></aff><aff id="aff27"><addr-line><sup>27</sup>Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142, USA</addr-line></aff><aff id="aff28"><addr-line><sup>28</sup>Division of Molecular Immunology, Center for Neurologic Disease, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA</addr-line></aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>derek.neilson@cchmc.org</email></corresp><fn id="fn1"><label>29</label><p>Present address: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA</p></fn><fn id="fn2"><label>30</label><p>Present address: The Scripps Research Institute, La Jolla, CA 92037, USA</p></fn><fn id="fn3"><label>31</label><p>Present address: Broad Institute of Massachusetts Institute of Technology, Cambridge, MA 02142, USA</p></fn><fn id="fn4"><label>32</label><p>Present address: Departments of Genetics and Orthopaedic Surgery, Howard Hughes Medical Institute, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA</p></fn></author-notes><pub-date pub-type="ppub"><day>09</day><month>1</month><year>2009</year></pub-date><volume>84</volume><issue>1</issue><fpage>44</fpage><lpage>51</lpage><history><date date-type="received"><day>22</day><month>10</month><year>2008</year></date><date date-type="rev-recd"><day>9</day><month>12</month><year>2008</year></date><date date-type="accepted"><day>12</day><month>12</month><year>2008</year></date></history><permissions><copyright-statement>© 2009 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved..</copyright-statement><copyright-year>2009</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder><license><p>This document may be redistributed and reused, subject to <ext-link ext-link-type="uri" xlink:href="http://www.elsevier.com/wps/find/authorsview.authors/supplementalterms1.0">certain conditions</ext-link>.</p></license></permissions><abstract><p>Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such as influenza and parainfluenza. Most ANE is sporadic and nonrecurrent (isolated ANE). However, we identified a 7 Mb interval containing a susceptibility locus (<italic>ANE1</italic>) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant trait. We now report that all affected individuals and obligate carriers in this family are heterozygous for a missense mutation (c.1880C→T, p.Thr585Met) in the gene encoding the nuclear pore protein Ran Binding Protein 2 (<italic>RANBP2</italic>). To determine whether this mutation is the susceptibility allele, we screened controls and other patients with ANE who are unrelated to the index family. Patients from 9 of 15 additional kindreds with familial or recurrent ANE had the identical mutation. It arose de novo in two families and independently in several other families. Two other patients with familial ANE had different <italic>RANBP2</italic> missense mutations that altered conserved residues. None of the three <italic>RANBP2</italic> missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude that missense mutations in <italic>RANBP2</italic> are susceptibility alleles for familial and recurrent cases of ANE.</p></abstract></article-meta></front><floats-wrap><fig id="fig1"><label>Figure 1</label><caption><p>Pedigrees of 16 Families with Familial or Recurrent ANE</p><p>Pedigrees with mutations in <italic>RANBP2</italic> are given in (A) whereas those without mutation are shown in (B). Family numbers are given at top. Symbol notations for (A) as follows: filled, mutation carrier, affected with ANE; filled with white lower right quandrant, mutation carrier, recurrent ANE; vertical bar, mutation carrier; horizontal bar, encephalopathy, unconfirmed as ANE; underlined symbol, DNA studied; circled symbol, molecularly proven de novo mutation carrier. For simplicity, not all siblings and spouses are shown in pedigree 586. Symbol notations for (B) are equivalent to (A) except without mutation.</p></caption><graphic xlink:href="gr1"></graphic></fig><fig id="fig2"><label>Figure 2</label><caption><p>Mutation Identification in <italic>RANBP2</italic></p><p>(A) The locations and orientations of <italic>RANBP2, GCC2</italic>, and the <italic>RGPD</italic>s are shown on a partial ideogram of chromosome 2.</p><p>(B) A comparison of the genomic regions of <italic>RANBP2</italic> and <italic>RGPD5</italic> indicating strong structural and sequence conservation for their exons 1-18 (upper lines) and the divergence of their 3′ regions (lower lines). <italic>RGPD5</italic> is deleted for a portion of exon 20 and has its final three exons derived from <italic>GCC2</italic> (shaded box). This enables <italic>RANBP2</italic>-specific cDNA to be synthesized with a primer (hollow arrow) in the gene's 3′UTR. Also shown is the location of the c.1880C→T mutation in exon 12 of <italic>RANBP2</italic> (arrowhead).</p><p>(C) Sequencing electropherograms of <italic>RANBP2</italic>-specific cDNA reveals a c.1880C→T transition in the patient but not the control.</p><p>(D) Intronic primers that amplify exon 12 of <italic>RANBP2</italic> and the <italic>RGPD</italic> paralogs (upper two electropherograms) demonstrate multiple paralog-derived signal alterations (arrowheads) in the patient and the control. In contrast, sequence specific to exon 12 of <italic>RANBP2</italic> (lower electropherograms) shows the absence of paralog-derived signals in the patient and control, but persistence of the c.1880C→T mutation (arrow) in the patient.</p><p>(E) Schematic diagram of RANBP2 protein indicating the “leucine-rich” domain (LD), four Ran binding domains (RBD), eight zinc finger repeats (ZnF), a cyclophilin A domain (CyA), and a SUMO E3 ligase domain (E3). In the partial deletion of the 20<sup>th</sup> exon, the RGPDs lose the ZnF and second RBD domain. The derived exons from <italic>GCC2</italic> provide a new C-terminal GRIP domain which targets the RGPDs to the Golgi. The sites of the p.Thr585Met, p.Thr653Ile, and p.Ile656Val LD domain substitutions associated with ANE1 are indicated by arrows.</p></caption><graphic xlink:href="gr2"></graphic></fig><fig id="fig3"><label>Figure 3</label><caption><p>Comparison of Mutation-Bearing Haplotypes in Seven Families with c.1880C→T Mutation</p><p>The haplotypes of seven families show differences in intragenic and extragenic polymorphic markers, suggesting independent origins for each family of the linked c.1880C→T mutation. Alleles are shown in their contiguous arrangement and represented as STR PCR fragment size (e.g., D2S2229), nucleotide allele (e.g., rs826559), or repeat count (ss76880141). Marker distances are given relative to the c.1880C→T mutation site (0 Kb), with orientation along the plus strand of the chromosome. <italic>RANBP2</italic> intragenic markers are delineated between horizontal lines at −4.1 Kb and +25.8 Kb. To highlight the potential for, or lack of, ancestral relationship, matching alleles are given the same unique color. When noninformative, both alleles are shown (e.g., family 102, D2S293).</p></caption><graphic xlink:href="gr3"></graphic></fig><fig id="fig4"><label>Figure 4</label><caption><p>Brain MRI Findings in a Child (690, II:1) with Familial and Recurrent Acute Necrotizing Encephalopathy</p><p>T2-weighted images obtained during the acute encephalopathy (top) are shown in comparison to resolved images obtained 6 months later (middle) and images from a recurrent episode 3 years later (bottom). During acute events, abnormal signal is visible in the pons (white arrow), midbrain (thin white arrow), amygdala (black arrow), thalamus (black arrowhead), and external capsule (white arrowhead).</p></caption><graphic xlink:href="gr4"></graphic></fig></floats-wrap></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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