Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12
Identifieur interne : 001F71 ( Pmc/Curation ); précédent : 001F70; suivant : 001F72Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12
Auteurs : Guida Landouré [Mali, États-Unis] ; Peng-Peng Zhu [États-Unis] ; Charles M. Lourenço [Brésil] ; Janel O. Johnson [États-Unis] ; Camilo Toro [États-Unis] ; Katherine V. Bricceno [États-Unis] ; Carlo Rinaldi [États-Unis] ; Katherine G. Meilleur [États-Unis] ; Modibo Sangaré [États-Unis] ; Oumarou Diallo [États-Unis] ; Tyler M. Pierson [États-Unis] ; Hiroyuki Ishiura [Japon] ; Shoji Tsuji [Japon] ; Nichole Hein [États-Unis] ; John K. Fink [États-Unis] ; Marion Stoll [Australie] ; Garth Nicholson [Australie] ; Michael Gonzalez [États-Unis] ; Fiorella Speziani [États-Unis] ; Alexandra Dürr [France] ; Giovanni Stevanin [France] ; Leslie G. Biesecker ; John Accardi [États-Unis] ; Dennis M. D. Landis [États-Unis] ; William A. Gahl [États-Unis] ; Bryan J. Traynor [États-Unis] ; Wilson Marques [Brésil] ; Stephan Züchner [États-Unis] ; Craig Blackstone [États-Unis] ; Kenneth H. Fischbeck [États-Unis] ; Barrington G. Burnett [États-Unis]Source :
- Human mutation [ 1059-7794 ] ; 2013.
Abstract
We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in
Url:
DOI: 10.1002/humu.22378
PubMed: 23857908
PubMed Central: 3819934
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Lourenço</name><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neuroscience and Behaviour Sciences, School of Medicine of Ribeirão Preto, University of Sao Polo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neuroscience and Behaviour Sciences, School of Medicine of Ribeirão Preto, University of Sao Polo</wicri:regionArea></affiliation></author><author><name sortKey="Johnson, Janel O" sort="Johnson, Janel O" uniqKey="Johnson J" first="Janel O." last="Johnson">Janel O. 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Bricceno</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Rinaldi, Carlo" sort="Rinaldi, Carlo" uniqKey="Rinaldi C" first="Carlo" last="Rinaldi">Carlo Rinaldi</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Meilleur, Katherine G" sort="Meilleur, Katherine G" uniqKey="Meilleur K" first="Katherine G." last="Meilleur">Katherine G. Meilleur</name><affiliation wicri:level="2"><nlm:aff id="A6">Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Sangare, Modibo" sort="Sangare, Modibo" uniqKey="Sangare M" first="Modibo" last="Sangaré">Modibo Sangaré</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Diallo, Oumarou" sort="Diallo, Oumarou" uniqKey="Diallo O" first="Oumarou" last="Diallo">Oumarou Diallo</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Pierson, Tyler M" sort="Pierson, Tyler M" uniqKey="Pierson T" first="Tyler M." last="Pierson">Tyler M. Pierson</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A5">NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Ishiura, Hiroyuki" sort="Ishiura, Hiroyuki" uniqKey="Ishiura H" first="Hiroyuki" last="Ishiura">Hiroyuki Ishiura</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo</wicri:regionArea></affiliation></author><author><name sortKey="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo</wicri:regionArea></affiliation></author><author><name sortKey="Hein, Nichole" sort="Hein, Nichole" uniqKey="Hein N" first="Nichole" last="Hein">Nichole Hein</name><affiliation wicri:level="2"><nlm:aff id="A8">Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Neurology, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Fink, John K" sort="Fink, John K" uniqKey="Fink J" first="John K." last="Fink">John K. Fink</name><affiliation wicri:level="2"><nlm:aff id="A8">Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Neurology, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A9">Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, University of Michigan, Ann Arbor, Michigan</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, University of Michigan, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Stoll, Marion" sort="Stoll, Marion" uniqKey="Stoll M" first="Marion" last="Stoll">Marion Stoll</name><affiliation wicri:level="1"><nlm:aff id="A10">Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name><affiliation wicri:level="1"><nlm:aff id="A10">Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Gonzalez, Michael" sort="Gonzalez, Michael" uniqKey="Gonzalez M" first="Michael" last="Gonzalez">Michael Gonzalez</name><affiliation wicri:level="2"><nlm:aff id="A11">Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Speziani, Fiorella" sort="Speziani, Fiorella" uniqKey="Speziani F" first="Fiorella" last="Speziani">Fiorella Speziani</name><affiliation wicri:level="2"><nlm:aff id="A11">Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="1"><nlm:aff id="A12">AP-HP, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, 75013 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, 75013 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A13">Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM/UPMC UMRS975, CNRS UMR7225, Pitié-Salpêtrière Hospital, 75013 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM/UPMC UMRS975, CNRS UMR7225, Pitié-Salpêtrière Hospital, 75013 Paris</wicri:regionArea></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation wicri:level="1"><nlm:aff id="A12">AP-HP, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, 75013 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, 75013 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A13">Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM/UPMC UMRS975, CNRS UMR7225, Pitié-Salpêtrière Hospital, 75013 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM/UPMC UMRS975, CNRS UMR7225, Pitié-Salpêtrière Hospital, 75013 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Ecole Pratique des Hautes Etudes (EPHE), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Ecole Pratique des Hautes Etudes (EPHE), Paris</wicri:regionArea></affiliation></author><author><name sortKey="Biesecker, Leslie G" sort="Biesecker, Leslie G" uniqKey="Biesecker L" first="Leslie G." last="Biesecker">Leslie G. Biesecker</name></author><author><name sortKey="Accardi, John" sort="Accardi, John" uniqKey="Accardi J" first="John" last="Accardi">John Accardi</name><affiliation wicri:level="2"><nlm:aff id="A5">NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Landis, Dennis M D" sort="Landis, Dennis M D" uniqKey="Landis D" first="Dennis M. D." last="Landis">Dennis M. D. Landis</name><affiliation wicri:level="2"><nlm:aff id="A5">NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Gahl, William A" sort="Gahl, William A" uniqKey="Gahl W" first="William A." last="Gahl">William A. Gahl</name><affiliation wicri:level="2"><nlm:aff id="A5">NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Traynor, Bryan J" sort="Traynor, Bryan J" uniqKey="Traynor B" first="Bryan J." last="Traynor">Bryan J. Traynor</name><affiliation wicri:level="2"><nlm:aff id="A4">Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neuroscience and Behaviour Sciences, School of Medicine of Ribeirão Preto, University of Sao Polo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neuroscience and Behaviour Sciences, School of Medicine of Ribeirão Preto, University of Sao Polo</wicri:regionArea></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name><affiliation wicri:level="2"><nlm:aff id="A11">Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Blackstone, Craig" sort="Blackstone, Craig" uniqKey="Blackstone C" first="Craig" last="Blackstone">Craig Blackstone</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Fischbeck, Kenneth H" sort="Fischbeck, Kenneth H" uniqKey="Fischbeck K" first="Kenneth H." last="Fischbeck">Kenneth H. Fischbeck</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Burnett, Barrington G" sort="Burnett, Barrington G" uniqKey="Burnett B" first="Barrington G." last="Burnett">Barrington G. Burnett</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23857908</idno><idno type="pmc">3819934</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819934</idno><idno type="RBID">PMC:3819934</idno><idno type="doi">10.1002/humu.22378</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002117</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002117</idno><idno type="wicri:Area/Pmc/Curation">001F71</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001F71</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in <italic>C19orf12</italic></title><author><name sortKey="Landoure, Guida" sort="Landoure, Guida" uniqKey="Landoure G" first="Guida" last="Landouré">Guida Landouré</name><affiliation wicri:level="1"><nlm:aff id="A1">Service de Neurologie, Centre Hospitalier Universitaire du Point “G”, Bamako, Mali</nlm:aff><country xml:lang="fr">Mali</country><wicri:regionArea>Service de Neurologie, Centre Hospitalier Universitaire du Point “G”, Bamako</wicri:regionArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Zhu, Peng Peng" sort="Zhu, Peng Peng" uniqKey="Zhu P" first="Peng-Peng" last="Zhu">Peng-Peng Zhu</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M." last="Lourenço">Charles M. Lourenço</name><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neuroscience and Behaviour Sciences, School of Medicine of Ribeirão Preto, University of Sao Polo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neuroscience and Behaviour Sciences, School of Medicine of Ribeirão Preto, University of Sao Polo</wicri:regionArea></affiliation></author><author><name sortKey="Johnson, Janel O" sort="Johnson, Janel O" uniqKey="Johnson J" first="Janel O." last="Johnson">Janel O. Johnson</name><affiliation wicri:level="2"><nlm:aff id="A4">Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Toro, Camilo" sort="Toro, Camilo" uniqKey="Toro C" first="Camilo" last="Toro">Camilo Toro</name><affiliation wicri:level="2"><nlm:aff id="A5">NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Bricceno, Katherine V" sort="Bricceno, Katherine V" uniqKey="Bricceno K" first="Katherine V." last="Bricceno">Katherine V. Bricceno</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Rinaldi, Carlo" sort="Rinaldi, Carlo" uniqKey="Rinaldi C" first="Carlo" last="Rinaldi">Carlo Rinaldi</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Meilleur, Katherine G" sort="Meilleur, Katherine G" uniqKey="Meilleur K" first="Katherine G." last="Meilleur">Katherine G. Meilleur</name><affiliation wicri:level="2"><nlm:aff id="A6">Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Sangare, Modibo" sort="Sangare, Modibo" uniqKey="Sangare M" first="Modibo" last="Sangaré">Modibo Sangaré</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Diallo, Oumarou" sort="Diallo, Oumarou" uniqKey="Diallo O" first="Oumarou" last="Diallo">Oumarou Diallo</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Pierson, Tyler M" sort="Pierson, Tyler M" uniqKey="Pierson T" first="Tyler M." last="Pierson">Tyler M. Pierson</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A5">NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Ishiura, Hiroyuki" sort="Ishiura, Hiroyuki" uniqKey="Ishiura H" first="Hiroyuki" last="Ishiura">Hiroyuki Ishiura</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo</wicri:regionArea></affiliation></author><author><name sortKey="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo</wicri:regionArea></affiliation></author><author><name sortKey="Hein, Nichole" sort="Hein, Nichole" uniqKey="Hein N" first="Nichole" last="Hein">Nichole Hein</name><affiliation wicri:level="2"><nlm:aff id="A8">Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Neurology, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Fink, John K" sort="Fink, John K" uniqKey="Fink J" first="John K." last="Fink">John K. Fink</name><affiliation wicri:level="2"><nlm:aff id="A8">Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Neurology, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A9">Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, University of Michigan, Ann Arbor, Michigan</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, University of Michigan, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Stoll, Marion" sort="Stoll, Marion" uniqKey="Stoll M" first="Marion" last="Stoll">Marion Stoll</name><affiliation wicri:level="1"><nlm:aff id="A10">Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name><affiliation wicri:level="1"><nlm:aff id="A10">Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Gonzalez, Michael" sort="Gonzalez, Michael" uniqKey="Gonzalez M" first="Michael" last="Gonzalez">Michael Gonzalez</name><affiliation wicri:level="2"><nlm:aff id="A11">Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Speziani, Fiorella" sort="Speziani, Fiorella" uniqKey="Speziani F" first="Fiorella" last="Speziani">Fiorella Speziani</name><affiliation wicri:level="2"><nlm:aff id="A11">Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="1"><nlm:aff id="A12">AP-HP, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, 75013 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, 75013 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A13">Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM/UPMC UMRS975, CNRS UMR7225, Pitié-Salpêtrière Hospital, 75013 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM/UPMC UMRS975, CNRS UMR7225, Pitié-Salpêtrière Hospital, 75013 Paris</wicri:regionArea></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation wicri:level="1"><nlm:aff id="A12">AP-HP, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, 75013 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, 75013 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A13">Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM/UPMC UMRS975, CNRS UMR7225, Pitié-Salpêtrière Hospital, 75013 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM/UPMC UMRS975, CNRS UMR7225, Pitié-Salpêtrière Hospital, 75013 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Ecole Pratique des Hautes Etudes (EPHE), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Ecole Pratique des Hautes Etudes (EPHE), Paris</wicri:regionArea></affiliation></author><author><name sortKey="Biesecker, Leslie G" sort="Biesecker, Leslie G" uniqKey="Biesecker L" first="Leslie G." last="Biesecker">Leslie G. Biesecker</name></author><author><name sortKey="Accardi, John" sort="Accardi, John" uniqKey="Accardi J" first="John" last="Accardi">John Accardi</name><affiliation wicri:level="2"><nlm:aff id="A5">NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Landis, Dennis M D" sort="Landis, Dennis M D" uniqKey="Landis D" first="Dennis M. D." last="Landis">Dennis M. D. Landis</name><affiliation wicri:level="2"><nlm:aff id="A5">NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Gahl, William A" sort="Gahl, William A" uniqKey="Gahl W" first="William A." last="Gahl">William A. Gahl</name><affiliation wicri:level="2"><nlm:aff id="A5">NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Traynor, Bryan J" sort="Traynor, Bryan J" uniqKey="Traynor B" first="Bryan J." last="Traynor">Bryan J. Traynor</name><affiliation wicri:level="2"><nlm:aff id="A4">Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neuroscience and Behaviour Sciences, School of Medicine of Ribeirão Preto, University of Sao Polo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neuroscience and Behaviour Sciences, School of Medicine of Ribeirão Preto, University of Sao Polo</wicri:regionArea></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name><affiliation wicri:level="2"><nlm:aff id="A11">Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Blackstone, Craig" sort="Blackstone, Craig" uniqKey="Blackstone C" first="Craig" last="Blackstone">Craig Blackstone</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Fischbeck, Kenneth H" sort="Fischbeck, Kenneth H" uniqKey="Fischbeck K" first="Kenneth H." last="Fischbeck">Kenneth H. Fischbeck</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Burnett, Barrington G" sort="Burnett, Barrington G" uniqKey="Burnett B" first="Barrington G." last="Burnett">Barrington G. Burnett</name><affiliation wicri:level="2"><nlm:aff id="A2">Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in <italic>C19orf12</italic>, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA). The same mutation was subsequently also found in a Brazilian family with features of NBIA, and we identified another NBIA patient with a three-nucleotide deletion (c.197_199del; p.Gly66del). Haplotype analysis revealed that the p.Ala63Pro mutations have a common origin, but MRI scans showed no brain iron deposition in the Malian SPG43 subjects. Heterologous expression of these SPG43 and NBIA variants resulted in similar alterations in the subcellular distribution of <italic>C19orf12</italic>. The SPG43 and NBIA variants reported here as well as the most common <italic>C19orf12</italic> missense mutation reported in NBIA patients are found within a highly-conserved, extended hydrophobic domain in <italic>C19orf12</italic>, underscoring the functional importance of this domain.</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>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9215429</journal-id><journal-id journal-id-type="pubmed-jr-id">2408</journal-id><journal-id journal-id-type="nlm-ta">Hum Mutat</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Mutat.</journal-id><journal-title-group><journal-title>Human mutation</journal-title></journal-title-group><issn pub-type="ppub">1059-7794</issn><issn pub-type="epub">1098-1004</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23857908</article-id><article-id pub-id-type="pmc">3819934</article-id><article-id pub-id-type="doi">10.1002/humu.22378</article-id><article-id pub-id-type="manuscript">NIHMS515655</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in <italic>C19orf12</italic></article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Landouré</surname><given-names>Guida</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Zhu</surname><given-names>Peng-Peng</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Lourenço</surname><given-names>Charles M.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Johnson</surname><given-names>Janel O.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Toro</surname><given-names>Camilo</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Bricceno</surname><given-names>Katherine V.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Rinaldi</surname><given-names>Carlo</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Meilleur</surname><given-names>Katherine G.</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Sangaré</surname><given-names>Modibo</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Diallo</surname><given-names>Oumarou</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Pierson</surname><given-names>Tyler M.</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Ishiura</surname><given-names>Hiroyuki</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Tsuji</surname><given-names>Shoji</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Hein</surname><given-names>Nichole</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Fink</surname><given-names>John K.</given-names></name><xref ref-type="aff" rid="A8">8</xref><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Stoll</surname><given-names>Marion</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Nicholson</surname><given-names>Garth</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Gonzalez</surname><given-names>Michael</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Speziani</surname><given-names>Fiorella</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Dürr</surname><given-names>Alexandra</given-names></name><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Stevanin</surname><given-names>Giovanni</given-names></name><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A13">13</xref><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Biesecker</surname><given-names>Leslie G.</given-names></name></contrib><contrib contrib-type="author"><collab>for the NIH Intramural Sequencing Center</collab><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Accardi</surname><given-names>John</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Landis</surname><given-names>Dennis M. D.</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Gahl</surname><given-names>William A.</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Traynor</surname><given-names>Bryan J.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Marques</surname><given-names>Wilson</given-names><suffix>Jr</suffix></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Züchner</surname><given-names>Stephan</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Blackstone</surname><given-names>Craig</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Fischbeck</surname><given-names>Kenneth H.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Burnett</surname><given-names>Barrington G.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib></contrib-group><aff id="A1"><label>1</label>Service de Neurologie, Centre Hospitalier Universitaire du Point “G”, Bamako, Mali</aff><aff id="A2"><label>2</label>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland</aff><aff id="A3"><label>3</label>Department of Neuroscience and Behaviour Sciences, School of Medicine of Ribeirão Preto, University of Sao Polo, Brazil</aff><aff id="A4"><label>4</label>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</aff><aff id="A5"><label>5</label>NIH Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland</aff><aff id="A6"><label>6</label>Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland</aff><aff id="A7"><label>7</label>Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan</aff><aff id="A8"><label>8</label>Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan</aff><aff id="A9"><label>9</label>Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, University of Michigan, Ann Arbor, Michigan</aff><aff id="A10"><label>10</label>Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Sydney, Australia</aff><aff id="A11"><label>11</label>Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</aff><aff id="A12"><label>12</label>AP-HP, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, 75013 Paris, France</aff><aff id="A13"><label>13</label>Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM/UPMC UMRS975, CNRS UMR7225, Pitié-Salpêtrière Hospital, 75013 Paris, France</aff><aff id="A14"><label>14</label>Ecole Pratique des Hautes Etudes (EPHE), Paris, France</aff><aff id="A15"><label>15</label>Genetic Disease Research Branch and NIH Intramural Sequencing Center, National Institutes of Health, Bethesda, Maryland</aff><author-notes><corresp id="FN1">Corresponding author: Guida Landouré, Service de Neurologie, Centre Hospitalier Universitaire du Point “G”, Point “G”, Bamako, Mali, PO Box: 333, <email>landoureg@ninds.nih.gov</email>, Tel: +223 76 36 34 68, Fax: +223 20 22 97 90</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>17</day><month>10</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>12</day><month>8</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>10</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>10</month><year>2014</year></pub-date><volume>34</volume><issue>10</issue><elocation-id>10.1002/humu.22378</elocation-id><abstract><p id="P1">We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in <italic>C19orf12</italic>, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA). The same mutation was subsequently also found in a Brazilian family with features of NBIA, and we identified another NBIA patient with a three-nucleotide deletion (c.197_199del; p.Gly66del). Haplotype analysis revealed that the p.Ala63Pro mutations have a common origin, but MRI scans showed no brain iron deposition in the Malian SPG43 subjects. Heterologous expression of these SPG43 and NBIA variants resulted in similar alterations in the subcellular distribution of <italic>C19orf12</italic>. The SPG43 and NBIA variants reported here as well as the most common <italic>C19orf12</italic> missense mutation reported in NBIA patients are found within a highly-conserved, extended hydrophobic domain in <italic>C19orf12</italic>, underscoring the functional importance of this domain.</p></abstract><kwd-group><kwd>SPG43</kwd><kwd>NBIA</kwd><kwd><italic>C19orf12</italic></kwd><kwd>hereditary spastic paraplegia</kwd></kwd-group><funding-group><award-group><funding-source country="United States">National Human Genome Research Institute : NHGRI</funding-source><award-id>ZIA HG000215-10 || HG</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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