Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2
Identifieur interne : 008270 ( Main/Exploration ); précédent : 008269; suivant : 008271Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2
Auteurs : Derek E. Neilson [États-Unis] ; Mark D. Adams [États-Unis] ; Caitlin M. D. Orr [États-Unis] ; Deborah K. Schelling [États-Unis] ; Robert M. Eiben [États-Unis] ; Douglas S. Kerr [États-Unis] ; Jane Anderson [États-Unis] ; Alexander G. Bassuk [États-Unis] ; Ann M. Bye [Australie] ; Anne-Marie Childs [Royaume-Uni] ; Antonia Clarke [Royaume-Uni] ; Yanick J. Crow [Royaume-Uni] ; Maja Di Rocco [Italie] ; Christian Dohna-Schwake [Allemagne] ; Gregor Dueckers [Allemagne] ; Alfonso E. Fasano [Italie] ; Artemis D. Gika [Royaume-Uni] ; Dimitris Gionnis [Grèce] ; Mark P. German [États-Unis] ; Padraic J. Grattan-Smith [Australie] ; Annette Hackenberg [Allemagne] ; Alice Kuster [France] ; Markus G. Lentschig [Allemagne] ; Eduardo Lopez-Laso ; Elysa J. Marco ; Sotiria Mastroyianni ; Julie Perrier ; Thomas Schmitt-Mechelke ; Serenella Servidei [Italie] ; Angeliki Skardoutsou ; Peter Uldall ; Marjo S. Van Der Knaap ; Karrie C. Goglin [États-Unis] ; David L. Tefft [États-Unis] ; Cristin Aubin ; Philip De Jager ; David Hafler ; Matthew L. Warman [États-Unis]Source :
- American journal of human genetics [ 0002-9297 ] ; 2009.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
Abstract
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 (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, auto-somal-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 (RANBP2). 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 RANBP2 missense mutations that altered conserved residues. None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude that missense mutations in RANBP2 are susceptibility alleles for familial and recurrent cases of ANE.
Url:
Affiliations:
- Allemagne, Australie, France, Grèce, Italie, Royaume-Uni, États-Unis
- Attique (région), Brême (Land), Californie, Latium
- Athènes, Brême, Rome, San Francisco
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Le document en format XML
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Fasano</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Neurology, Gemelli Hospital, Catholic University of Sacred Heart</s1><s2>Rome 00168</s2><s3>ITA</s3><sZ>16 aut.</sZ><sZ>29 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></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 wicri:level="1"><inist:fA14 i1="09"><s1>Department of Paediatric Neurology, St George's Hospital</s1><s2>London SW17 OQT</s2><s3>GBR</s3><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>London SW17 OQT</wicri:noRegion></affiliation></author><author><name sortKey="Gionnis, Dimitris" sort="Gionnis, Dimitris" uniqKey="Gionnis D" first="Dimitris" last="Gionnis">Dimitris Gionnis</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Pediatric Intensive Care Unit, University of Athens, "P & A Kyriakou" Children's Hospital</s1><s2>Athens 11527</s2><s3>GRC</s3><sZ>18 aut.</sZ></inist:fA14><country>Grèce</country><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="German, Mark P" sort="German, Mark P" uniqKey="German M" first="Mark P." last="German">Mark P. German</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Neurology, Children's Hospital Boston</s1><s2>Boston, MA 02115</s2><s3>USA</s3><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Boston, MA 02115</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="07"><s1>Sydney Children's Hospital</s1><s2>Randwick, NSW 2031</s2><s3>AUS</s3><sZ>9 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Sydney Children's Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Hackenberg, Annette" sort="Hackenberg, Annette" uniqKey="Hackenberg A" first="Annette" last="Hackenberg">Annette Hackenberg</name><affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Professor-Hess-Kinderklinik, Klinikum Bremen-Mitte</s1><s2>Bremen 28177</s2><s3>DEU</s3><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Brême (Land)</region><settlement type="city">Brême</settlement></placeName></affiliation></author><author><name sortKey="Kuster, Alice" sort="Kuster, Alice" uniqKey="Kuster A" first="Alice" last="Kuster">Alice Kuster</name><affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Metabolic Unit, University Hospital of Nantes</s1><s2>Nantes 44093</s2><s3>FRA</s3><sZ>22 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>44093</wicri:noRegion><wicri:noRegion>University Hospital of Nantes</wicri:noRegion><wicri:noRegion>Nantes 44093</wicri:noRegion></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 wicri:level="3"><inist:fA14 i1="18"><s1>MR and PET-CT centre Bremen-Mitte</s1><s2>Bremen 28177</s2><s3>DEU</s3><sZ>23 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Brême (Land)</region><settlement type="city">Brême</settlement></placeName></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></author><author><name sortKey="Marco, Elysa J" sort="Marco, Elysa J" uniqKey="Marco E" first="Elysa J." last="Marco">Elysa J. Marco</name></author><author><name sortKey="Mastroyianni, Sotiria" sort="Mastroyianni, Sotiria" uniqKey="Mastroyianni S" first="Sotiria" last="Mastroyianni">Sotiria Mastroyianni</name></author><author><name sortKey="Perrier, Julie" sort="Perrier, Julie" uniqKey="Perrier J" first="Julie" last="Perrier">Julie Perrier</name></author><author><name sortKey="Schmitt Mechelke, Thomas" sort="Schmitt Mechelke, Thomas" uniqKey="Schmitt Mechelke T" first="Thomas" last="Schmitt-Mechelke">Thomas Schmitt-Mechelke</name></author><author><name sortKey="Servidei, Serenella" sort="Servidei, Serenella" uniqKey="Servidei S" first="Serenella" last="Servidei">Serenella Servidei</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Neurology, Gemelli Hospital, Catholic University of Sacred Heart</s1><s2>Rome 00168</s2><s3>ITA</s3><sZ>16 aut.</sZ><sZ>29 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Skardoutsou, Angeliki" sort="Skardoutsou, Angeliki" uniqKey="Skardoutsou A" first="Angeliki" last="Skardoutsou">Angeliki Skardoutsou</name></author><author><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name></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></author><author><name sortKey="Goglin, Karrie C" sort="Goglin, Karrie C" uniqKey="Goglin K" first="Karrie C." last="Goglin">Karrie C. Goglin</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="01"><s1>Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation></author><author><name sortKey="Aubin, Cristin" sort="Aubin, Cristin" uniqKey="Aubin C" first="Cristin" last="Aubin">Cristin Aubin</name></author><author><name sortKey="De Jager, Philip" sort="De Jager, Philip" uniqKey="De Jager P" first="Philip" last="De Jager">Philip De Jager</name></author><author><name sortKey="Hafler, David" sort="Hafler, David" uniqKey="Hafler D" first="David" last="Hafler">David Hafler</name></author><author><name sortKey="Warman, Matthew L" sort="Warman, Matthew L" uniqKey="Warman M" first="Matthew L." last="Warman">Matthew L. Warman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Center for Human Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pediatrics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">09-0075205</idno><date when="2009">2009</date><idno type="stanalyst">PASCAL 09-0075205 INIST</idno><idno type="RBID">Pascal:09-0075205</idno><idno type="wicri:Area/PascalFrancis/Corpus">003031</idno><idno type="wicri:Area/PascalFrancis/Curation">002F86</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002A57</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">002A57</idno><idno type="wicri:doubleKey">0002-9297:2009:Neilson D:infection:triggered:familial</idno><idno type="wicri:Area/Main/Merge">008A26</idno><idno type="wicri:source">PMC</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668029</idno><idno type="RBID">PMC:2668029</idno><idno type="wicri:Area/Pmc/Corpus">001703</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001703</idno><idno type="wicri:Area/Pmc/Curation">001563</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001563</idno><idno type="wicri:Area/Pmc/Checkpoint">002780</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002780</idno><idno type="wicri:Area/Ncbi/Merge">000503</idno><idno type="wicri:Area/Ncbi/Curation">000503</idno><idno type="wicri:Area/Ncbi/Checkpoint">000503</idno><idno type="wicri:doubleKey">0002-9297:2009:Neilson D:infection:triggered:familial</idno><idno type="wicri:Area/Main/Merge">008265</idno><idno type="wicri:Area/Main/Curation">008270</idno><idno type="wicri:Area/Main/Exploration">008270</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2</title><author><name sortKey="Neilson, Derek E" sort="Neilson, Derek E" uniqKey="Neilson D" first="Derek E." last="Neilson">Derek E. Neilson</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Center for Human Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pediatrics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="01"><s1>Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="01"><s1>Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="01"><s1>Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pediatrics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>MetroHealth Medical Center</s1><s2>Cleveland, OH 44109</s2><s3>USA</s3><sZ>5 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>MetroHealth Medical Center</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pediatrics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation></author><author><name sortKey="Anderson, Jane" sort="Anderson, Jane" uniqKey="Anderson J" first="Jane" last="Anderson">Jane Anderson</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Pediatrics, University of California, San Francisco</s1><s2>San Francisco, CA 94118</s2><s3>USA</s3><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">San Francisco</settlement><region type="state">Californie</region></placeName></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 wicri:level="1"><inist:fA14 i1="06"><s1>Department of Pediatrics, University of Iowa Children's Hospital</s1><s2>Iowa City, IA 52242</s2><s3>USA</s3><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Iowa City, IA 52242</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="07"><s1>Sydney Children's Hospital</s1><s2>Randwick, NSW 2031</s2><s3>AUS</s3><sZ>9 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Sydney Children's Hospital</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="08"><s1>Department of Paediatric Neurology, Leeds Teaching Hospitals Trust</s1><s2>Leeds LS2 9NS</s2><s3>GBR</s3><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Leeds LS2 9NS</wicri:noRegion></affiliation></author><author><name sortKey="Clarke, Antonia" sort="Clarke, Antonia" uniqKey="Clarke A" first="Antonia" last="Clarke">Antonia Clarke</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Paediatric Neurology, St George's Hospital</s1><s2>London SW17 OQT</s2><s3>GBR</s3><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>London SW17 OQT</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="10"><s1>Leeds Institute of Molecular Medicine, St James's University Hospital</s1><s2>Leeds LS9 7TF</s2><s3>GBR</s3><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Leeds LS9 7TF</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="11"><s1>Unit of Rare Diseases, II Division of Pediatrics, Gaslini Institute</s1><s2>Genoa 16147</s2><s3>ITA</s3><sZ>13 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Genoa 16147</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="12"><s1>Department of Pediatrics, Neuropediatrics, Neonatal and Pediatric Intensive Care, University Children's Hospital Essen</s1><s2>45130 Essen</s2><s3>DEU</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>45130 Essen</wicri:noRegion><wicri:noRegion>University Children's Hospital Essen</wicri:noRegion><wicri:noRegion>45130 Essen</wicri:noRegion></affiliation></author><author><name sortKey="Dueckers, Gregor" sort="Dueckers, Gregor" uniqKey="Dueckers G" first="Gregor" last="Dueckers">Gregor Dueckers</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Pediatrics, Neuropediatrics, Neonatal and Pediatric Intensive Care, University Children's Hospital Essen</s1><s2>45130 Essen</s2><s3>DEU</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>45130 Essen</wicri:noRegion><wicri:noRegion>University Children's Hospital Essen</wicri:noRegion><wicri:noRegion>45130 Essen</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="13"><s1>Department of Neurology, Gemelli Hospital, Catholic University of Sacred Heart</s1><s2>Rome 00168</s2><s3>ITA</s3><sZ>16 aut.</sZ><sZ>29 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></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 wicri:level="1"><inist:fA14 i1="09"><s1>Department of Paediatric Neurology, St George's Hospital</s1><s2>London SW17 OQT</s2><s3>GBR</s3><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>London SW17 OQT</wicri:noRegion></affiliation></author><author><name sortKey="Gionnis, Dimitris" sort="Gionnis, Dimitris" uniqKey="Gionnis D" first="Dimitris" last="Gionnis">Dimitris Gionnis</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Pediatric Intensive Care Unit, University of Athens, "P & A Kyriakou" Children's Hospital</s1><s2>Athens 11527</s2><s3>GRC</s3><sZ>18 aut.</sZ></inist:fA14><country>Grèce</country><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="German, Mark P" sort="German, Mark P" uniqKey="German M" first="Mark P." last="German">Mark P. German</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Neurology, Children's Hospital Boston</s1><s2>Boston, MA 02115</s2><s3>USA</s3><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Boston, MA 02115</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="07"><s1>Sydney Children's Hospital</s1><s2>Randwick, NSW 2031</s2><s3>AUS</s3><sZ>9 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Sydney Children's Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Hackenberg, Annette" sort="Hackenberg, Annette" uniqKey="Hackenberg A" first="Annette" last="Hackenberg">Annette Hackenberg</name><affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Professor-Hess-Kinderklinik, Klinikum Bremen-Mitte</s1><s2>Bremen 28177</s2><s3>DEU</s3><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Brême (Land)</region><settlement type="city">Brême</settlement></placeName></affiliation></author><author><name sortKey="Kuster, Alice" sort="Kuster, Alice" uniqKey="Kuster A" first="Alice" last="Kuster">Alice Kuster</name><affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Metabolic Unit, University Hospital of Nantes</s1><s2>Nantes 44093</s2><s3>FRA</s3><sZ>22 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>44093</wicri:noRegion><wicri:noRegion>University Hospital of Nantes</wicri:noRegion><wicri:noRegion>Nantes 44093</wicri:noRegion></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 wicri:level="3"><inist:fA14 i1="18"><s1>MR and PET-CT centre Bremen-Mitte</s1><s2>Bremen 28177</s2><s3>DEU</s3><sZ>23 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Brême (Land)</region><settlement type="city">Brême</settlement></placeName></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></author><author><name sortKey="Marco, Elysa J" sort="Marco, Elysa J" uniqKey="Marco E" first="Elysa J." last="Marco">Elysa J. Marco</name></author><author><name sortKey="Mastroyianni, Sotiria" sort="Mastroyianni, Sotiria" uniqKey="Mastroyianni S" first="Sotiria" last="Mastroyianni">Sotiria Mastroyianni</name></author><author><name sortKey="Perrier, Julie" sort="Perrier, Julie" uniqKey="Perrier J" first="Julie" last="Perrier">Julie Perrier</name></author><author><name sortKey="Schmitt Mechelke, Thomas" sort="Schmitt Mechelke, Thomas" uniqKey="Schmitt Mechelke T" first="Thomas" last="Schmitt-Mechelke">Thomas Schmitt-Mechelke</name></author><author><name sortKey="Servidei, Serenella" sort="Servidei, Serenella" uniqKey="Servidei S" first="Serenella" last="Servidei">Serenella Servidei</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Neurology, Gemelli Hospital, Catholic University of Sacred Heart</s1><s2>Rome 00168</s2><s3>ITA</s3><sZ>16 aut.</sZ><sZ>29 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Skardoutsou, Angeliki" sort="Skardoutsou, Angeliki" uniqKey="Skardoutsou A" first="Angeliki" last="Skardoutsou">Angeliki Skardoutsou</name></author><author><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name></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></author><author><name sortKey="Goglin, Karrie C" sort="Goglin, Karrie C" uniqKey="Goglin K" first="Karrie C." last="Goglin">Karrie C. Goglin</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="01"><s1>Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation></author><author><name sortKey="Aubin, Cristin" sort="Aubin, Cristin" uniqKey="Aubin C" first="Cristin" last="Aubin">Cristin Aubin</name></author><author><name sortKey="De Jager, Philip" sort="De Jager, Philip" uniqKey="De Jager P" first="Philip" last="De Jager">Philip De Jager</name></author><author><name sortKey="Hafler, David" sort="Hafler, David" uniqKey="Hafler D" first="David" last="Hafler">David Hafler</name></author><author><name sortKey="Warman, Matthew L" sort="Warman, Matthew L" uniqKey="Warman M" first="Matthew L." last="Warman">Matthew L. Warman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Center for Human Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pediatrics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center</s1><s2>Cleveland, OH 44106</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, OH 44106</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acute</term><term>Case study</term><term>Encephalopathy</term><term>Family study</term><term>Genetics</term><term>Human</term><term>Infection</term><term>Mutation</term><term>Nuclear pore</term><term>Recurrent</term><term>Relapse</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Infection</term><term>Encéphalopathie</term><term>Etude familiale</term><term>Récidive</term><term>Récidivant</term><term>Etude cas</term><term>Aigu</term><term>Mutation</term><term>Pore nucléaire</term><term>Génétique</term><term>Homme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, auto-somal-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 (RANBP2). 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 RANBP2 missense mutations that altered conserved residues. None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude that missense mutations in RANBP2 are susceptibility alleles for familial and recurrent cases of ANE.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Grèce</li><li>Italie</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Attique (région)</li><li>Brême (Land)</li><li>Californie</li><li>Latium</li></region><settlement><li>Athènes</li><li>Brême</li><li>Rome</li><li>San Francisco</li></settlement></list><tree><noCountry><name sortKey="Aubin, Cristin" sort="Aubin, Cristin" uniqKey="Aubin C" first="Cristin" last="Aubin">Cristin Aubin</name><name sortKey="De Jager, Philip" sort="De Jager, Philip" uniqKey="De Jager P" first="Philip" last="De Jager">Philip De Jager</name><name sortKey="Hafler, David" sort="Hafler, David" uniqKey="Hafler D" first="David" last="Hafler">David Hafler</name><name sortKey="Lopez Laso, Eduardo" sort="Lopez Laso, Eduardo" uniqKey="Lopez Laso E" first="Eduardo" last="Lopez-Laso">Eduardo Lopez-Laso</name><name sortKey="Marco, Elysa J" sort="Marco, Elysa J" uniqKey="Marco E" first="Elysa J." last="Marco">Elysa J. Marco</name><name sortKey="Mastroyianni, Sotiria" sort="Mastroyianni, Sotiria" uniqKey="Mastroyianni S" first="Sotiria" last="Mastroyianni">Sotiria Mastroyianni</name><name sortKey="Perrier, Julie" sort="Perrier, Julie" uniqKey="Perrier J" first="Julie" last="Perrier">Julie Perrier</name><name sortKey="Schmitt Mechelke, Thomas" sort="Schmitt Mechelke, Thomas" uniqKey="Schmitt Mechelke T" first="Thomas" last="Schmitt-Mechelke">Thomas Schmitt-Mechelke</name><name sortKey="Skardoutsou, Angeliki" sort="Skardoutsou, Angeliki" uniqKey="Skardoutsou A" first="Angeliki" last="Skardoutsou">Angeliki Skardoutsou</name><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name><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></noCountry><country name="États-Unis"><noRegion><name sortKey="Neilson, Derek E" sort="Neilson, Derek E" uniqKey="Neilson D" first="Derek E." last="Neilson">Derek E. Neilson</name></noRegion><name sortKey="Adams, Mark D" sort="Adams, Mark D" uniqKey="Adams M" first="Mark D." last="Adams">Mark D. Adams</name><name sortKey="Anderson, Jane" sort="Anderson, Jane" uniqKey="Anderson J" first="Jane" last="Anderson">Jane Anderson</name><name sortKey="Bassuk, Alexander G" sort="Bassuk, Alexander G" uniqKey="Bassuk A" first="Alexander G." last="Bassuk">Alexander G. Bassuk</name><name sortKey="Eiben, Robert M" sort="Eiben, Robert M" uniqKey="Eiben R" first="Robert M." last="Eiben">Robert M. Eiben</name><name sortKey="Eiben, Robert M" sort="Eiben, Robert M" uniqKey="Eiben R" first="Robert M." last="Eiben">Robert M. Eiben</name><name sortKey="German, Mark P" sort="German, Mark P" uniqKey="German M" first="Mark P." last="German">Mark P. German</name><name sortKey="Goglin, Karrie C" sort="Goglin, Karrie C" uniqKey="Goglin K" first="Karrie C." last="Goglin">Karrie C. Goglin</name><name sortKey="Kerr, Douglas S" sort="Kerr, Douglas S" uniqKey="Kerr D" first="Douglas S." last="Kerr">Douglas S. Kerr</name><name sortKey="Neilson, Derek E" sort="Neilson, Derek E" uniqKey="Neilson D" first="Derek E." last="Neilson">Derek E. Neilson</name><name sortKey="Neilson, Derek E" sort="Neilson, Derek E" uniqKey="Neilson D" first="Derek E." last="Neilson">Derek E. Neilson</name><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><name sortKey="Schelling, Deborah K" sort="Schelling, Deborah K" uniqKey="Schelling D" first="Deborah K." last="Schelling">Deborah K. Schelling</name><name sortKey="Tefft, David L" sort="Tefft, David L" uniqKey="Tefft D" first="David L." last="Tefft">David L. Tefft</name><name sortKey="Warman, Matthew L" sort="Warman, Matthew L" uniqKey="Warman M" first="Matthew L." last="Warman">Matthew L. Warman</name><name sortKey="Warman, Matthew L" sort="Warman, Matthew L" uniqKey="Warman M" first="Matthew L." last="Warman">Matthew L. Warman</name><name sortKey="Warman, Matthew L" sort="Warman, Matthew L" uniqKey="Warman M" first="Matthew L." last="Warman">Matthew L. Warman</name></country><country name="Australie"><noRegion><name sortKey="Bye, Ann M" sort="Bye, Ann M" uniqKey="Bye A" first="Ann M." last="Bye">Ann M. Bye</name></noRegion><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></country><country name="Royaume-Uni"><noRegion><name sortKey="Childs, Anne Marie" sort="Childs, Anne Marie" uniqKey="Childs A" first="Anne-Marie" last="Childs">Anne-Marie Childs</name></noRegion><name sortKey="Clarke, Antonia" sort="Clarke, Antonia" uniqKey="Clarke A" first="Antonia" last="Clarke">Antonia Clarke</name><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><name sortKey="Gika, Artemis D" sort="Gika, Artemis D" uniqKey="Gika A" first="Artemis D." last="Gika">Artemis D. Gika</name></country><country name="Italie"><noRegion><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name></noRegion><name sortKey="Fasano, Alfonso E" sort="Fasano, Alfonso E" uniqKey="Fasano A" first="Alfonso E." last="Fasano">Alfonso E. Fasano</name><name sortKey="Servidei, Serenella" sort="Servidei, Serenella" uniqKey="Servidei S" first="Serenella" last="Servidei">Serenella Servidei</name></country><country name="Allemagne"><noRegion><name sortKey="Dohna Schwake, Christian" sort="Dohna Schwake, Christian" uniqKey="Dohna Schwake C" first="Christian" last="Dohna-Schwake">Christian Dohna-Schwake</name></noRegion><name sortKey="Dueckers, Gregor" sort="Dueckers, Gregor" uniqKey="Dueckers G" first="Gregor" last="Dueckers">Gregor Dueckers</name><name sortKey="Hackenberg, Annette" sort="Hackenberg, Annette" uniqKey="Hackenberg A" first="Annette" last="Hackenberg">Annette Hackenberg</name><name sortKey="Lentschig, Markus G" sort="Lentschig, Markus G" uniqKey="Lentschig M" first="Markus G." last="Lentschig">Markus G. Lentschig</name></country><country name="Grèce"><region name="Attique (région)"><name sortKey="Gionnis, Dimitris" sort="Gionnis, Dimitris" uniqKey="Gionnis D" first="Dimitris" last="Gionnis">Dimitris Gionnis</name></region></country><country name="France"><noRegion><name sortKey="Kuster, Alice" sort="Kuster, Alice" uniqKey="Kuster A" first="Alice" last="Kuster">Alice Kuster</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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